2-54093402-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093402
    reference: chr 2
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.473-42G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5398-42G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.571-42G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2830-42G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1720-42G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3531-42G>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-54093406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093406
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093406
    reference: chr 2
allele count: 2
allele frequency: 1.671653767071764e-5
allele num: 119642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2830-46G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.473-46G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5398-46G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3531-46G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.571-46G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1720-46G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11361
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-54093407-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093407
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093407
    reference: chr 2
allele count: 1
allele frequency: 8.356173541012099e-6
allele num: 119672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1720-47T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2830-47T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.473-47T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3531-47T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5398-47T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.571-47T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5566
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-54093408-G-GGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093408
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093411
    reference: chr 2
allele count: 1
allele frequency: 8.361204013377926e-6
allele num: 119600
alternate allele: GGAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.571-51_571-49dupATC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5398-51_5398-49dupATC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.473-51_473-49dupATC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2830-51_2830-49dupATC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3531-51_*3531-49dupATC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1720-51_1720-49dupATC
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

2-54093839-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093839
    reference: chr 2
allele count: 4
allele frequency: 3.553218327500133e-5
allele num: 112574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.570+45T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5397+45T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2829+45T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.472+45T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3530+45T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1719+45T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

2-54093845-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093845
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093844
    reference: chr 2
allele count: 4
allele frequency: 3.550821127385708e-5
allele num: 112650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2829+38delA
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3530+38delA
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1719+38delA
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5397+38delA
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.570+38delA
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.472+38delA
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20553
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: CT
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

2-54093857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093857
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093857
    reference: chr 2
allele count: 8
allele frequency: 7.049824635612189e-5
allele num: 113478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.472+27C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1719+27C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5397+27C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.570+27C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3530+27C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2829+27C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27964
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

2-54093860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093860
    reference: chr 2
allele count: 1
allele frequency: 8.776703119240289e-6
allele num: 113938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.570+24G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3530+24G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5397+24G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2829+24G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1719+24G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.472+24G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29380
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4770
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-54093868-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093868
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093868
    reference: chr 2
allele count: 440
allele frequency: 3.818980332251289e-3
allele num: 115214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3530+16A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5397+16A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.472+16A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1719+16A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2829+16A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.570+16A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 1.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 2.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 32092
  bin: 2.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 6
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-54093870-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093869
    reference: chr 2
allele count: 1
allele frequency: 8.654561819535076e-6
allele num: 115546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.472+13delC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.570+13delC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1719+13delC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2829+13delC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3530+13delC
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5397+13delC
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: AG
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

2-54093878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093878
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093878
    reference: chr 2
allele count: 12
allele frequency: 1.029141867206394e-4
allele num: 116602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2829+6G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1719+6G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3530+6G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.570+6G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.472+6G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5397+6G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33701
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 2.25e1
  variant carriers: 0
hgvs: c.5397+6G>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-54093901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093901
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093901
    reference: chr 2
allele count: 3
allele frequency: 2.527081894300588e-5
allele num: 118714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1702G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.455G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.553G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2812G>A
  hgvsp: ENSP00000410830.2:p.Asp938Asn
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5380G>A
  hgvsp: ENSP00000384211.1:p.Asp1794Asn
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3513G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp1794Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-54093917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093917
    reference: chr 2
allele count: 1
allele frequency: 8.376612497905846e-6
allele num: 119380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.439C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.537C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5364C>T
  hgvsp: ENST00000404125.1:c.5364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2796C>T
  hgvsp: ENST00000421748.2:c.2796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3497C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1686C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33096
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1788Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

2-54093932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093932
    reference: chr 2
allele count: 1
allele frequency: 8.342092530490349e-6
allele num: 119874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.424G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2781G>A
  hgvsp: ENST00000421748.2:c.2781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5349G>A
  hgvsp: ENST00000404125.1:c.5349G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1671G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3482G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.522G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln1783Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-54093940-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093940
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093940
    reference: chr 2
allele count: 1
allele frequency: 8.320713584396998e-6
allele num: 120182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1663A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.514A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5341A>G
  hgvsp: ENSP00000384211.1:p.Met1781Val
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2773A>G
  hgvsp: ENSP00000410830.2:p.Met925Val
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.416A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3474A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32582
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met1781Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

2-54093944-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093944
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093944
    reference: chr 2
allele count: 1
allele frequency: 8.31255195344971e-6
allele num: 120300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.412C>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.510C>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3470C>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5337C>A
  hgvsp: ENST00000404125.1:c.5337C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2769C>A
  hgvsp: ENST00000421748.2:c.2769C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1659C>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1779Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-54093953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093953
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093953
    reference: chr 2
allele count: 2
allele frequency: 1.659145208388638e-5
allele num: 120544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2760T>C
  hgvsp: ENST00000421748.2:c.2760T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5328T>C
  hgvsp: ENST00000404125.1:c.5328T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3461T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.501T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.403T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1650T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32541
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4848
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asp1776Asp
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: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-54093955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093955
    reference: chr 2
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1648G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5326G>A
  hgvsp: ENSP00000384211.1:p.Asp1776Asn
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.499G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2758G>A
  hgvsp: ENSP00000410830.2:p.Asp920Asn
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3459G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.401G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp1776Asn
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-54093956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093956
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093956
    reference: chr 2
allele count: 7781
allele frequency: 6.454476076713783e-2
allele num: 120552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2757C>T
  hgvsp: ENST00000421748.2:c.2757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5325C>T
  hgvsp: ENST00000404125.1:c.5325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1647C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3458C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.400C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.498C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 1.75e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 865
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 2.75e1
  variant carriers: 630
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.25e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.75e1
  variant carriers: 784
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 3.25e1
  variant carriers: 810
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 3.75e1
  variant carriers: 870
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 841
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 5.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 29483
  bin: 2.25e1
  variant carriers: 421
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 9.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 5616
  bin: 6.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 2
hgvs: p.Tyr1775Tyr
num of homozygotes: 488
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-54093975-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093975
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093975
    reference: chr 2
allele count: 2
allele frequency: 1.654451301225948e-5
allele num: 120886
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3439G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1628G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2738G>A
  hgvsp: ENSP00000410830.2:p.Cys913Tyr
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5306G>A
  hgvsp: ENSP00000384211.1:p.Cys1769Tyr
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.381G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.479G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4972
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys1769Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

2-54093977-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093977
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093977
    reference: chr 2
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2736A>G
  hgvsp: ENST00000421748.2:c.2736A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.477A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1626A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.379A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3437A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5304A>G
  hgvsp: ENST00000404125.1:c.5304A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4971
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39487
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1768Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

2-54093991-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54093991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54093991
    reference: chr 2
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2722C>G
  hgvsp: ENSP00000410830.2:p.Leu908Val
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3423C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5290C>G
  hgvsp: ENSP00000384211.1:p.Leu1764Val
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.463C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.365C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1612C>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1764Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-54094004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094004
    reference: chr 2
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1599C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.352C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.450C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3410C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5277C>T
  hgvsp: ENST00000404125.1:c.5277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2709C>T
  hgvsp: ENST00000421748.2:c.2709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1759Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

2-54094008-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094008
    reference: chr 2
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3406A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1595A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5273A>G
  hgvsp: ENSP00000384211.1:p.Lys1758Arg
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2705A>G
  hgvsp: ENSP00000410830.2:p.Lys902Arg
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.446A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.348A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys1758Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-54094013-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094013
    reference: chr 2
allele count: 10
allele frequency: 8.281573498964803e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5268G>T
  hgvsp: ENSP00000384211.1:p.Leu1756Phe
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2700G>T
  hgvsp: ENSP00000410830.2:p.Leu900Phe
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.343G>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1590G>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.441G>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3401G>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1756Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-54094021-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094019
    reference: chr 2
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-6_437-5delTT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-6_*3397-5delTT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-6_339-5delTT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-6_2696-5delTT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-6_1586-5delTT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-6_5264-5delTT
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4954
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: c.5264-6_5264-5delTT
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: CAA
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-54094025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094025
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094025
    reference: chr 2
allele count: 7
allele frequency: 5.814533009934545e-5
allele num: 120388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-8C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-8C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-8C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-8C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-8C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-8C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16814
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
hgvs: c.5264-8C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-54094026-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094026
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094026
    reference: chr 2
allele count: 3
allele frequency: 2.492273950752667e-5
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-9T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-9T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-9T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-9T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-9T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-9T>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16787
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

2-54094027-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094027
    reference: chr 2
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-10C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-10C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-10C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-10C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-10C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-10C>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6590
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-54094028-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094028
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094028
    reference: chr 2
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-11T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-11T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-11T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-11T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-11T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-11T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-54094030-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094030
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094030
    reference: chr 2
allele count: 2
allele frequency: 1.663561352142667e-5
allele num: 120224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-13A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-13A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-13A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-13A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-13A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-13A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS

2-54094035-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094035
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094035
    reference: chr 2
allele count: 5
allele frequency: 4.16340533248955e-5
allele num: 120094
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-18T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-18T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-18T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-18T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-18T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-18T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15995
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27240
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-54094045-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094045
    reference: chr 2
allele count: 138
allele frequency: 1.151458514117883e-3
allele num: 119848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-28T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-28T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-28T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-28T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-28T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-28T>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25144
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14809
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-54094046-A-AAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094046
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094048
    reference: chr 2
allele count: 2
allele frequency: 1.671011296036361e-5
allele num: 119688
alternate allele: AAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-31_1586-30dupAT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-31_5264-30dupAT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-31_339-30dupAT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-31_2696-30dupAT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-31_*3397-30dupAT
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-31_437-30dupAT
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-54094052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094052
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094052
    reference: chr 2
allele count: 1
allele frequency: 8.357989402069439e-6
allele num: 119646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-35A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-35A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-35A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-35A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-35A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-35A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-54094053-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094053
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094053
    reference: chr 2
allele count: 1
allele frequency: 8.354498061756449e-6
allele num: 119696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-36T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-36T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-36T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-36T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-36T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-36T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-54094054-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094054
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094054
    reference: chr 2
allele count: 1
allele frequency: 8.35812911637859e-6
allele num: 119644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-37A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-37A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-37A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-37A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-37A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-37A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5812
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-54094055-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094055
    reference: chr 2
allele count: 5
allele frequency: 4.183050280264369e-5
allele num: 119530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-38T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-38T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-38T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-38T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-38T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-38T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-54094055-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094055
    reference: chr 2
allele count: 1
allele frequency: 8.366100560528738e-6
allele num: 119530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-38T>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-38T>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-38T>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-38T>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-38T>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-38T>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-54094056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094056
    reference: chr 2
allele count: 92
allele frequency: 7.696297411701719e-4
allele num: 119538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-39A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-39A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-39A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-39A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-39A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-39A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21886
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5014
  bin: 9.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-54094057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094057
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094057
    reference: chr 2
allele count: 1
allele frequency: 8.372965369415233e-6
allele num: 119432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-40C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-40C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-40C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-40C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-40C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-40C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21849
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-54094061-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094061
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094061
    reference: chr 2
allele count: 1
allele frequency: 8.386447500838645e-6
allele num: 119240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-44G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-44G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-44G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-44G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-44G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-44G>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-54094065-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094065
    reference: chr 2
allele count: 1
allele frequency: 8.394754957102802e-6
allele num: 119122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-48A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-48A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-48A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-48A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-48A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-48A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23133
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20470
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

2-54094066-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094066
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094066
    reference: chr 2
allele count: 1
allele frequency: 8.407317729351627e-6
allele num: 118944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-49C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-49C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-49C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-49C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-49C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-49C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23086
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-54094068-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54094068
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54094068
    reference: chr 2
allele count: 1
allele frequency: 8.428576244900712e-6
allele num: 118644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-51T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.437-51T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2696-51T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3397-51T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5264-51T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1586-51T>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

2-54096470-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096470
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096470
    reference: chr 2
allele count: 1
allele frequency: 8.686436997272459e-6
allele num: 115122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2695+43A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2453A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1585+43A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3396+43A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.436+43A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5263+43A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
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genotype quality: GenotypeQuality
  all individuals: 3506
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 2601
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genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 154
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35269
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-54096475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096475
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096475
    reference: chr 2
allele count: 1
allele frequency: 8.67935009026524e-6
allele num: 115216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.436+38G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3396+38G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1585+38G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2458G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2695+38G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5263+38G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4769
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-54096479-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096479
    reference: chr 2
allele count: 40
allele frequency: 3.457515774915723e-4
allele num: 115690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.436+34T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2462T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2695+34T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5263+34T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3396+34T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1585+34T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35280
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

2-54096481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096481
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096481
    reference: chr 2
allele count: 1
allele frequency: 8.633192900062159e-6
allele num: 115832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2464T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3396+32T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2695+32T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5263+32T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.436+32T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1585+32T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-54096495-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096495
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096495
    reference: chr 2
allele count: 1
allele frequency: 8.530239699735563e-6
allele num: 117230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2695+18A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.436+18A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1585+18A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5263+18A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3396+18A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2478A>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

2-54096496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096496
    reference: chr 2
allele count: 5
allele frequency: 4.262938016881235e-5
allele num: 117290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.436+17G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2695+17G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5263+17G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2479G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1585+17G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3396+17G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-54096498-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096498
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096498
    reference: chr 2
allele count: 1
allele frequency: 8.498342823149486e-6
allele num: 117670
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5263+15A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.436+15A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3396+15A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1585+15A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2695+15A>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2481A>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-54096518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096518
    reference: chr 2
allele count: 2
allele frequency: 1.66433659543306e-5
allele num: 120168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2690C>T
  hgvsp: ENSP00000410830.2:p.Ser897Phe
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1580C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2501C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5258C>T
  hgvsp: ENSP00000384211.1:p.Ser1753Phe
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3391C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.431C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser1753Phe
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

2-54096528-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096528
    reference: chr 2
allele count: 94
allele frequency: 7.787645811240721e-4
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2511A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.421A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2680A>G
  hgvsp: ENSP00000410830.2:p.Thr894Ala
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3381A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5248A>G
  hgvsp: ENSP00000384211.1:p.Thr1750Ala
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1570A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7745
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35265
  bin: 9.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1750Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-54096533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096533
    reference: chr 2
allele count: 2
allele frequency: 1.654396558855158e-5
allele num: 120890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3376G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.416G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2516G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5243G>A
  hgvsp: ENSP00000384211.1:p.Gly1748Glu
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1565G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2675G>A
  hgvsp: ENSP00000410830.2:p.Gly892Glu
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1748Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-54096538-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096538
    reference: chr 2
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2670T>C
  hgvsp: ENST00000421748.2:c.2670T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1560T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3371T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5238T>C
  hgvsp: ENST00000404125.1:c.5238T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.411T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2521T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser1746Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-54096545-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096545
    reference: chr 2
allele count: 2
allele frequency: 1.649783878311941e-5
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1553C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2663C>G
  hgvsp: ENSP00000410830.2:p.Pro888Arg
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.404C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2528C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5231C>G
  hgvsp: ENSP00000384211.1:p.Pro1744Arg
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3364C>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9227
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1744Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-54096547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096547
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096547
    reference: chr 2
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2530C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3362C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.402C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1551C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2661C>T
  hgvsp: ENST00000421748.2:c.2661C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5229C>T
  hgvsp: ENST00000404125.1:c.5229C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp1743Asp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-54096547-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096547
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096547
    reference: chr 2
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.402C>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2530C>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2661C>A
  hgvsp: ENSP00000410830.2:p.Asp887Glu
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5229C>A
  hgvsp: ENSP00000384211.1:p.Asp1743Glu
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1551C>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3362C>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp1743Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-54096549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096549
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096549
    reference: chr 2
allele count: 3
allele frequency: 2.473696362017217e-5
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3360G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1549G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2659G>A
  hgvsp: ENSP00000410830.2:p.Asp887Asn
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2532G>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5227G>A
  hgvsp: ENSP00000384211.1:p.Asp1743Asn
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.400G>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp1743Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-54096552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096552
    reference: chr 2
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.397C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2535C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2656C>T
  hgvsp: ENSP00000410830.2:p.Arg886Ter
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5224C>T
  hgvsp: ENSP00000384211.1:p.Arg1742Ter
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1546C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3357C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35214
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg1742Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-54096563-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096563
    reference: chr 2
allele count: 4
allele frequency: 3.295924589245398e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2645A>C
  hgvsp: ENSP00000410830.2:p.Lys882Thr
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2546A>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1535A>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.386A>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5213A>C
  hgvsp: ENSP00000384211.1:p.Lys1738Thr
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3346A>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys1738Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-54096568-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096568
    reference: chr 2
allele count: 4
allele frequency: 3.295381522795802e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3341A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2640A>G
  hgvsp: ENST00000421748.2:c.2640A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5208A>G
  hgvsp: ENST00000404125.1:c.5208A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2551A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1530A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.381A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1736Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-54096570-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096570
    reference: chr 2
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2553C>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2638C>A
  hgvsp: ENSP00000410830.2:p.Leu880Ile
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5206C>A
  hgvsp: ENSP00000384211.1:p.Leu1736Ile
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3339C>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1528C>A
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.379C>A
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1736Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff

2-54096619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096619
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5157C>T
  hgvsp: ENST00000404125.1:c.5157C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2589C>T
  hgvsp: ENST00000421748.2:c.2589C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3290C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1479C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.330C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2602C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35208
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr1719Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-54096622-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096622
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096622
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2605T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1476T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.327T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5154T>G
  hgvsp: ENST00000404125.1:c.5154T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3287T>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2586T>G
  hgvsp: ENST00000421748.2:c.2586T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu1718Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-54096624-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096624
    reference: chr 2
allele count: 17
allele frequency: 1.400444847186754e-4
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2607C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5152C>G
  hgvsp: ENSP00000384211.1:p.Leu1718Val
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2584C>G
  hgvsp: ENSP00000410830.2:p.Leu862Val
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3285C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1474C>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.325C>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1718Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-54096644-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096644
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2627G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1454G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2564G>C
  hgvsp: ENSP00000410830.2:p.Gly855Ala
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5132G>C
  hgvsp: ENSP00000384211.1:p.Gly1711Ala
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3265G>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.305G>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1711Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-54096646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096646
    reference: chr 2
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1452C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5130C>T
  hgvsp: ENST00000404125.1:c.5130C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2562C>T
  hgvsp: ENST00000421748.2:c.2562C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.303C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3263C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2629C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1710Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-54096659-G-GGCAATGACTCCGCACCCTCTCACCAAAGGACTAATGAAGGACCGAATAATCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096659
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096711
    reference: chr 2
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: GGCAATGACTCCGCACCCTCTCACCAAAGGACTAATGAAGGACCGAATAATCC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsp: ENSP00000410830.2:p.Ala850GlyfsTer28
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsp: ENSP00000384211.1:p.Ala1706GlyfsTer28
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1706GlyfsTer28
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

2-54096665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096665
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096665
    reference: chr 2
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2648T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.284T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3244T>C
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5111T>C
  hgvsp: ENSP00000384211.1:p.Met1704Thr
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2543T>C
  hgvsp: ENSP00000410830.2:p.Met848Thr
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1433T>C
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1704Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-54096678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096678
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096678
    reference: chr 2
allele count: 1
allele frequency: 8.418075291265404e-6
allele num: 118792
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5101-3C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1420C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3234-3C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2661C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.274-3C>T
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2533-3C>T
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.75e1
  variant carriers: 0
hgvs: c.5101-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

2-54096679-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54096679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 54096679
    reference: chr 2
allele count: 1
allele frequency: 8.428292090890703e-6
allele num: 118648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000488687
  gene symbol: PSME4
  hgvsc: ENST00000488687.1:n.1419A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000410830
  ensembl transcript: ENST00000421748
  gene symbol: PSME4
  hgvsc: ENST00000421748.2:c.2533-4A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000476586
  gene symbol: PSME4
  hgvsc: ENST00000476586.1:n.274-4A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl transcript: ENST00000466539
  gene symbol: PSME4
  hgvsc: ENST00000466539.1:n.339-2662A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000384211
  ensembl transcript: ENST00000404125
  gene symbol: PSME4
  hgvsc: ENST00000404125.1:c.5101-4A>G
  variant of: http://identifiers.org/hgnc/20635
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068878
  ensembl protein: ENSP00000374643
  ensembl transcript: ENST00000389993
  gene symbol: PSME4
  hgvsc: ENST00000389993.3:c.*3234-4A>G
  variant of: http://identifiers.org/hgnc/20635
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
hgvs: c.5101-4A>G
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 5060
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4789
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19411
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 993
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
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: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.591e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.635e0

DP
type: SiteQuality
SIO_000300: 2.143616e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.918e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: -8.147e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

GenotypeQuality
all individuals: 3675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19412
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4789
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5060
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3179
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.309243257397224e-4
allele num: 15276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 66260
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

DP
type: SiteQuality
SIO_000300: 2.142876e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19411
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 773
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4789
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 66274
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

FS
type: SiteQuality
SIO_000300: 1.378e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

DP
type: SiteQuality
SIO_000300: 2.142551e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

GenotypeQuality
all individuals: 1425
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5561
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19409
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3675
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508978421608571e-5
allele num: 66270
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.814e1

FS
type: SiteQuality
SIO_000300: 9.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.423e0

DP
type: SiteQuality
SIO_000300: 2.142472e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.749e1

GenotypeQuality
all individuals: 655
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4763
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4592
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6256
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.440394152122109e-5
allele num: 62108
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.758e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 1.299193e6

GenotypeQuality
all individuals: 500
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19208
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.727865796831314e-4
allele num: 10730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.328805e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 8.27e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

GenotypeQuality
all individuals: 677
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4771
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.744907594765952e-5
allele num: 14826
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.001602564102564e-4
allele num: 9984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.55860349127182e-4
allele num: 6416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.003073180101158e-5
allele num: 62476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.333e1

DP
type: SiteQuality
SIO_000300: 1.406854e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

FS
type: SiteQuality
SIO_000300: 4.185e0

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

GenotypeQuality
all individuals: 1168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4656
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62716
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14932
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.220703125e-4
allele num: 8192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.241e1

DP
type: SiteQuality
SIO_000300: 1.425983e6

VQSLOD
type: SiteQuality
SIO_000300: -2.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32180
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3565
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5092
bin: 9.75e1
variant carriers: 418

GenotypeQuality
all individuals: 1675
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 4.75e1
variant carriers: 1

African
type: Population
allele count: 423
allele frequency: 4.193932183224271e-2
allele num: 10086
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.159158400202186e-5
allele num: 63308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.191567369385884e-3
allele num: 10910
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.544502617801048e-5
allele num: 15280
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

DP
type: SiteQuality
SIO_000300: 1.471857e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.55e-2

QD
type: SiteQuality
SIO_000300: 1.486e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

GenotypeQuality
all individuals: 1912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4818
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575497857322914e-5
allele num: 63472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.59e-1

MQ
type: SiteQuality
SIO_000300: 6.007e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.482177e6

QD
type: SiteQuality
SIO_000300: 5.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.538e0

GenotypeQuality
all individuals: 1288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4830
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 521
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 8.865248226950354e-4
allele num: 10152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.715423606082549e-4
allele num: 11048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.437e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.536e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 1.510438e6

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4831
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 387
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.607728696934325e-5
allele num: 65108
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.982e0

FS
type: SiteQuality
SIO_000300: 9.526999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

DP
type: SiteQuality
SIO_000300: 1.564824e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.415e1

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35871
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.167509559639817e-5
allele num: 16214
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e0

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.6678e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.014e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.631e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.35e-1

DP
type: SiteQuality
SIO_000300: 1.580015e6

VQSLOD
type: SiteQuality
SIO_000300: -2.023e0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 446
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.088e0

DP
type: SiteQuality
SIO_000300: 1.596558e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.744e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

QD
type: SiteQuality
SIO_000300: 1.023e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

GenotypeQuality
all individuals: 600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4841
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 590
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6353
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515335192144502e-5
allele num: 65992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.228e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

FS
type: SiteQuality
SIO_000300: 1.824e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 1.606561e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 7.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

GenotypeQuality
all individuals: 37653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4846
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.308e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.549e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.901e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
SIO_000300: 1.612755e6

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

GenotypeQuality
all individuals: 277
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021330593993595e-5
allele num: 66196
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e0

FS
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.192e1

DP
type: SiteQuality
SIO_000300: 1.621766e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

GenotypeQuality
all individuals: 751
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4848
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66182
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

DP
type: SiteQuality
SIO_000300: 1.624356e6

VQSLOD
type: SiteQuality
SIO_000300: -2.103e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

GenotypeQuality
all individuals: 1845
bin: 7.25e1
variant carriers: 9

GenotypeQuality
all individuals: 410
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 397
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10904
bin: 9.75e1
variant carriers: 7104

GenotypeQuality
all individuals: 34700
bin: 6.25e1
variant carriers: 23

GenotypeQuality
all individuals: 1947
bin: 7.75e1
variant carriers: 29

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 13

African
type: Population
allele count: 2575
allele frequency: 2.484561945194906e-1
allele num: 10364
num of homozygotes: 332

Other
type: Population
allele count: 49
allele frequency: 5.408388520971302e-2
allele num: 906
num of homozygotes: 2

South Asian
type: Population
allele count: 235
allele frequency: 1.433976080058579e-2
allele num: 16388
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 3903
allele frequency: 5.896304801039369e-2
allele num: 66194
num of homozygotes: 118

European (Finnish)
type: Population
allele count: 602
allele frequency: 9.126743480897513e-2
allele num: 6596
num of homozygotes: 24

Latino
type: Population
allele count: 354
allele frequency: 3.088466236258943e-2
allele num: 11462
num of homozygotes: 5

East Asian
type: Population
allele count: 63
allele frequency: 7.289979171488082e-3
allele num: 8642
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.507e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 1.829542e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.45e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6753
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011141222523336e-5
allele num: 66420
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.197e1

DP
type: SiteQuality
SIO_000300: 1.660791e6

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
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variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.66099e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

FS
type: SiteQuality
SIO_000300: 9.173e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4968
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.574e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

FS
type: SiteQuality
SIO_000300: 8.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

DP
type: SiteQuality
SIO_000300: 1.662879e6

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6785
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4965
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 661
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variant carriers: 0

GenotypeQuality
all individuals: 2229
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variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66432
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.359e1

FS
type: SiteQuality
SIO_000300: 2.112e0

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.146e0

DP
type: SiteQuality
SIO_000300: 1.663324e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6788
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4962
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 658
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variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.943e0

MQ
type: SiteQuality
SIO_000300: 5.826e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

DP
type: SiteQuality
SIO_000300: 1.662842e6

VQSLOD
type: SiteQuality
SIO_000300: -1.809e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

MQRankSum
type: SiteQuality
SIO_000300: -8.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2444
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6730
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.506886471173262e-4
allele num: 66362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 1.660449e6

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.509e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39024
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509206157561123e-5
allele num: 66260
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.051e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

FS
type: SiteQuality
SIO_000300: 4.849e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.654257e6

MQ
type: SiteQuality
SIO_000300: 5.997e1

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.771135616173341e-4
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
SIO_000300: 1.305e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.343e1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.804e0

DP
type: SiteQuality
SIO_000300: 1.647247e6

GenotypeQuality
all individuals: 656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4956
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6613
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53295457979511e-5
allele num: 66182
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e0

DP
type: SiteQuality
SIO_000300: 1.64543e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.103e1

MQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

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

GenotypeQuality
all individuals: 656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2155
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variant carriers: 0

GenotypeQuality
all individuals: 4953
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.697164724299878e-5
allele num: 11498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.644078e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 1.091e1

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.285e0

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 4953
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38095
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.577e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 7.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.64193e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.409e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 863
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4954
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6528
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.25e1
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GenotypeQuality
all individuals: 2147
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.19348445435402e-5
allele num: 16146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66134
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

DP
type: SiteQuality
SIO_000300: 1.633985e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.227e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4954
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35606
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.565670015736593e-5
allele num: 66088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

DP
type: SiteQuality
SIO_000300: 1.619213e6

FS
type: SiteQuality
SIO_000300: 3.334e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.392e1

MQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5061
bin: 9.75e1
variant carriers: 137

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 72
allele frequency: 1.091471364036018e-3
allele num: 65966
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.306392614527086e-3
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15978
num of homozygotes: 0

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

African
type: Population
allele count: 50
allele frequency: 4.852484472049689e-3
allele num: 10304
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.589254e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

VQSLOD
type: SiteQuality
SIO_000300: 6.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

QD
type: SiteQuality
SIO_000300: 1.456e1

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
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variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4948
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6100
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
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: 3.034164694459615e-5
allele num: 65916
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.046e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 1.588828e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4944
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.55861e6

VQSLOD
type: SiteQuality
SIO_000300: -8.47e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.31e-1

QD
type: SiteQuality
SIO_000300: 1.004e1

GenotypeQuality
all individuals: 2857
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 601
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5832
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

FS
type: SiteQuality
SIO_000300: 7.243e0

DP
type: SiteQuality
SIO_000300: 1.558306e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

VQSLOD
type: SiteQuality
SIO_000300: -3.683e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e0

QD
type: SiteQuality
SIO_000300: 1.422e1

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4943
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 646
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 1.558208e6

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 2.23e0

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

GenotypeQuality
all individuals: 1991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4948
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038220817889044e-5
allele num: 65828
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 1.548659e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5648
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15832
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.222e1

FS
type: SiteQuality
SIO_000300: 3.302e0

DP
type: SiteQuality
SIO_000300: 1.548659e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

GenotypeQuality
all individuals: 5629
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26853
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 89
allele frequency: 8.6458130950068e-3
allele num: 10294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15840
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.743375174337517e-4
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518971959777622e-5
allele num: 65834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e0

FS
type: SiteQuality
SIO_000300: 1.767e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

QD
type: SiteQuality
SIO_000300: 1.34e1

DP
type: SiteQuality
SIO_000300: 1.54898e6

GenotypeQuality
all individuals: 683
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4940
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3309
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65780
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.373e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.162e0

DP
type: SiteQuality
SIO_000300: 1.548571e6

VQSLOD
type: SiteQuality
SIO_000300: -5.162e-1

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

GenotypeQuality
all individuals: 1917
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2757
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 641
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4940
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65688
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.486e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 1.53687e6

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5307
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15654
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 1.369e1

DP
type: SiteQuality
SIO_000300: 1.529486e6

GenotypeQuality
all individuals: 4940
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3654
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52522725886157e-5
allele num: 65564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.665e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

DP
type: SiteQuality
SIO_000300: 1.530033e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

GenotypeQuality
all individuals: 1823
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16443
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4839
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4941
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520681265206813e-4
allele num: 6576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.499e1

VQSLOD
type: SiteQuality
SIO_000300: -8.147e-1

DP
type: SiteQuality
SIO_000300: 1.533385e6

MQ
type: SiteQuality
SIO_000300: 5.874e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

FS
type: SiteQuality
SIO_000300: 3.051e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.66e0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12082
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65112
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.002e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 3.296e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.837905e6

QD
type: SiteQuality
SIO_000300: 1.355e1

GenotypeQuality
all individuals: 2855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35265
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65128
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.101e1

FS
type: SiteQuality
SIO_000300: 3.419e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.927e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

DP
type: SiteQuality
SIO_000300: 2.840706e6

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4976
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.131207847946045e-4
allele num: 65240
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.498e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 2.845412e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 6.81e-1

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35260
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.927699381639449e-5
allele num: 12614
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: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

DP
type: SiteQuality
SIO_000300: 2.845091e6

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.860047e6

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.11e-1

QD
type: SiteQuality
SIO_000300: 8.27e0

MQ
type: SiteQuality
SIO_000300: 5.765e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.827e0

FS
type: SiteQuality
SIO_000300: 7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35259
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 6194
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65586
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.194907813871817e-4
allele num: 13668
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 1.254e0

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

QD
type: SiteQuality
SIO_000300: 1.332e1

DP
type: SiteQuality
SIO_000300: 2.861838e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.409e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3507
bin: 9.25e1
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GenotypeQuality
all individuals: 35259
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65676
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.172572084349448e-5
allele num: 13942
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.621e1

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.629e0

DP
type: SiteQuality
SIO_000300: 2.864596e6

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35258
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.777e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 2.892203e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 3235
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GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 2880
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variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 1465
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.046993780234969e-4
allele num: 11576
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: 82
allele frequency: 7.881584006151481e-3
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.015580353114567e-5
allele num: 66494
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

VQSLOD
type: SiteQuality
SIO_000300: 5.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.909394e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 35220
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variant carriers: 2

GenotypeQuality
all individuals: 3237
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variant carriers: 0

GenotypeQuality
all individuals: 3116
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.234415504258734e-4
allele num: 16202
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.078e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

QD
type: SiteQuality
SIO_000300: 1.274e1

DP
type: SiteQuality
SIO_000300: 2.897695e6

GenotypeQuality
all individuals: 9095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35220
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3513
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.12294881214793e-5
allele num: 16332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.900006e6

MQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.264e0

GenotypeQuality
all individuals: 3145
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35220
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216841080554879e-4
allele num: 16436
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.902049e6

MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

FS
type: SiteQuality
SIO_000300: 6.043e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.107e0

QD
type: SiteQuality
SIO_000300: 1.276e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.224e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 2.902447e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.764e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35218
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9250
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.902447e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.764e0

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

FS
type: SiteQuality
SIO_000300: 1.107e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.224e0

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35216
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5004500450045e-5
allele num: 66660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

DP
type: SiteQuality
SIO_000300: 2.902718e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 3.254e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.128e0

QD
type: SiteQuality
SIO_000300: 1.257e1

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9288
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.902986e6

FS
type: SiteQuality
SIO_000300: 2.458e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.199e0

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35211
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1471
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 2.903746e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.903865e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.412e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.296e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 1.206e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

DP
type: SiteQuality
SIO_000300: 2.903472e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
all individuals: 1470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

FS
type: SiteQuality
SIO_000300: 5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.886e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.568e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.903452e6

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.032e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e0

DP
type: SiteQuality
SIO_000300: 2.903427e6

QD
type: SiteQuality
SIO_000300: 1.548e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -1.179e0

MQRankSum
type: SiteQuality
SIO_000300: -2.048e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.642e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 17
allele frequency: 1.964409521608505e-3
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.904347e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 2878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 2.900103e6

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

GenotypeQuality
all individuals: 260
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3512
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 6.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.18e-1

DP
type: SiteQuality
SIO_000300: 2.89905e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

QD
type: SiteQuality
SIO_000300: 1.412e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.258e0

DP
type: SiteQuality
SIO_000300: 2.893172e6

VQSLOD
type: SiteQuality
SIO_000300: -4.692e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.786e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

FS
type: SiteQuality
SIO_000300: 4.5546e1

MQ
type: SiteQuality
SIO_000300: 5.88e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3511
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15662
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

FS
type: SiteQuality
SIO_000300: 1.428e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.883934e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.226e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3507
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variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.721952167995334e-5
allele num: 10286
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14778
num of homozygotes: 0

Other
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allele count: 0
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allele num: 884
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.084e1

DP
type: SiteQuality
SIO_000300: 2.856412e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.408e0

ReadPosRankSum
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SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.52e-1