10-75279541-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279541
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279541
    reference: chr 10
allele count: 1
allele frequency: 8.383072899201931e-6
allele num: 119288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.653T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2036A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2678+14A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-59+14A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1125A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1125A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2228+14A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.224+14A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3252A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2678+14A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.555T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2036A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

10-75279549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279549
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279549
    reference: chr 10
allele count: 1
allele frequency: 8.355475342992263e-6
allele num: 119682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3244G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2678+6G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1117G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2044G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2678+6G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.224+6G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2228+6G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2044G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.661C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.563C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-59+6G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1117G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2678+6G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

10-75279564-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279564
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279564
    reference: chr 10
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.215A>G
  hgvsp: ENSP00000407368.2:p.Gln72Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-68A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2669A>G
  hgvsp: ENSP00000345216.4:p.Gln890Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2219A>G
  hgvsp: ENSP00000408714.1:p.Gln740Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1102A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.578T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3229A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2669A>G
  hgvsp: ENSP00000386080.1:p.Gln890Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.676T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2059A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1102A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2059A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln890Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

10-75279567-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279567
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279567
    reference: chr 10
allele count: 4
allele frequency: 3.331334532613765e-5
allele num: 120072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.212C>G
  hgvsp: ENSP00000407368.2:p.Ser71Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.581G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1099C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-71C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2666C>G
  hgvsp: ENSP00000345216.4:p.Ser889Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2666C>G
  hgvsp: ENSP00000386080.1:p.Ser889Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.679G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2216C>G
  hgvsp: ENSP00000408714.1:p.Ser739Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3226C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2062C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2062C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1099C>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser889Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

10-75279574-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279574
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279575
    reference: chr 10
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2208dupG
  hgvsp: ENSP00000408714.1:p.Thr737AspfsTer8
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-79dupG
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.204dupG
  hgvsp: ENSP00000407368.2:p.Thr69AspfsTer8
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2658dupG
  hgvsp: ENSP00000386080.1:p.Thr887AspfsTer8
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2658dupG
  hgvsp: ENSP00000345216.4:p.Thr887AspfsTer8
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.592dupC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2070dupG
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1091dupG
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2070dupG
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3218dupG
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.690dupC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1091dupG
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr887AspfsTer8
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

10-75279577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279577
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279577
    reference: chr 10
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2656G>A
  hgvsp: ENSP00000345216.4:p.Gly886Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-81G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2656G>A
  hgvsp: ENSP00000386080.1:p.Gly886Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2072G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.202G>A
  hgvsp: ENSP00000407368.2:p.Gly68Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.591C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1089G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.689C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2206G>A
  hgvsp: ENSP00000408714.1:p.Gly736Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2072G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3216G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1089G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly886Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

10-75279578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279578
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279578
    reference: chr 10
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2655G>A
  hgvsp: ENST00000408019.1:c.2655G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.592C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.201G>A
  hgvsp: ENST00000422491.2:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3215G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2655G>A
  hgvsp: ENST00000339859.4:c.2655G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1088G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2073G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1088G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.690C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-82G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2205G>A
  hgvsp: ENST00000428547.1:c.2205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2073G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala885Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

10-75279584-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279584
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279584
    reference: chr 10
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2079A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2199A>G
  hgvsp: ENST00000428547.1:c.2199A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3209A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-88A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.696T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.598T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1082A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.195A>G
  hgvsp: ENST00000422491.2:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2649A>G
  hgvsp: ENST00000339859.4:c.2649A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2649A>G
  hgvsp: ENST00000408019.1:c.2649A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2079A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1082A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr883Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

10-75279586-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279586
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279586
    reference: chr 10
allele count: 3
allele frequency: 2.495092983798529e-5
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2081A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.193A>T
  hgvsp: ENSP00000407368.2:p.Thr65Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.698T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.600T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2197A>T
  hgvsp: ENSP00000408714.1:p.Thr733Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2081A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2647A>T
  hgvsp: ENSP00000345216.4:p.Thr883Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2647A>T
  hgvsp: ENSP00000386080.1:p.Thr883Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-90A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1080A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1080A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3207A>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr883Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

10-75279586-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279586
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279586
    reference: chr 10
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.698T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3207A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.193A>G
  hgvsp: ENSP00000407368.2:p.Thr65Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1080A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2647A>G
  hgvsp: ENSP00000386080.1:p.Thr883Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2647A>G
  hgvsp: ENSP00000345216.4:p.Thr883Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2197A>G
  hgvsp: ENSP00000408714.1:p.Thr733Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-90A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.600T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2081A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1080A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2081A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr883Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

10-75279592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279592
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279592
    reference: chr 10
allele count: 2
allele frequency: 1.664198106142555e-5
allele num: 120178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.606G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3201C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-96C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1074C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.187C>T
  hgvsp: ENSP00000407368.2:p.Leu63Phe
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2087C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1074C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2641C>T
  hgvsp: ENSP00000345216.4:p.Leu881Phe
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2191C>T
  hgvsp: ENSP00000408714.1:p.Leu731Phe
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2087C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.704G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2641C>T
  hgvsp: ENSP00000386080.1:p.Leu881Phe
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu881Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

10-75279595-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279595
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279595
    reference: chr 10
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2090T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3198T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2638T>C
  hgvsp: ENSP00000345216.4:p.Cys880Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2090T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.707A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1071T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2638T>C
  hgvsp: ENSP00000386080.1:p.Cys880Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2188T>C
  hgvsp: ENSP00000408714.1:p.Cys730Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-99T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1071T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.184T>C
  hgvsp: ENSP00000407368.2:p.Cys62Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.609A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys880Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

10-75279598-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279598
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279598
    reference: chr 10
allele count: 1
allele frequency: 8.323345318950592e-6
allele num: 120144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2635G>C
  hgvsp: ENSP00000386080.1:p.Ala879Pro
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-102G>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2635G>C
  hgvsp: ENSP00000345216.4:p.Ala879Pro
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2185G>C
  hgvsp: ENSP00000408714.1:p.Ala729Pro
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3195G>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1068G>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.612C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2093G>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.710C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2093G>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1068G>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.181G>C
  hgvsp: ENSP00000407368.2:p.Ala61Pro
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala879Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

10-75279609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279609
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279609
    reference: chr 10
allele count: 10
allele frequency: 8.334027835652971e-5
allele num: 119990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1057C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2624C>T
  hgvsp: ENSP00000345216.4:p.Ser875Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2624C>T
  hgvsp: ENSP00000386080.1:p.Ser875Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2174C>T
  hgvsp: ENSP00000408714.1:p.Ser725Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1057C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-113C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.721G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2104C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2104C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.170C>T
  hgvsp: ENSP00000407368.2:p.Ser57Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3184C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.623G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ser875Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

10-75279611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279611
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279611
    reference: chr 10
allele count: 7
allele frequency: 5.834208464603024e-5
allele num: 119982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1055G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2106G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2622G>A
  hgvsp: ENST00000339859.4:c.2622G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.625C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.168G>A
  hgvsp: ENST00000422491.2:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1055G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2622G>A
  hgvsp: ENST00000408019.1:c.2622G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3182G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-115G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2106G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.723C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2172G>A
  hgvsp: ENST00000428547.1:c.2172G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro874Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

10-75279612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279612
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279612
    reference: chr 10
allele count: 11
allele frequency: 9.169570363948584e-5
allele num: 119962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.626G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2171C>T
  hgvsp: ENSP00000408714.1:p.Pro724Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.724G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-116C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1054C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.167C>T
  hgvsp: ENSP00000407368.2:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2107C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2621C>T
  hgvsp: ENSP00000386080.1:p.Pro874Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2621C>T
  hgvsp: ENSP00000345216.4:p.Pro874Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3181C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2107C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1054C>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro874Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

10-75279612-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279612
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279612
    reference: chr 10
allele count: 1
allele frequency: 8.335973058135075e-6
allele num: 119962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-116C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2107C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.724G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.626G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1054C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.167C>A
  hgvsp: ENSP00000407368.2:p.Pro56Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1054C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2171C>A
  hgvsp: ENSP00000408714.1:p.Pro724Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2621C>A
  hgvsp: ENSP00000386080.1:p.Pro874Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2621C>A
  hgvsp: ENSP00000345216.4:p.Pro874Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2107C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3181C>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro874Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

10-75279630-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279630
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279630
    reference: chr 10
allele count: 1
allele frequency: 8.366940544520491e-6
allele num: 119518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2125A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2603A>G
  hgvsp: ENSP00000345216.4:p.Gln868Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2603A>G
  hgvsp: ENSP00000386080.1:p.Gln868Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2125A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2153A>G
  hgvsp: ENSP00000408714.1:p.Gln718Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.149A>G
  hgvsp: ENSP00000407368.2:p.Gln50Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1036A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3163A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.742T>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-134A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.644T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1036A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln868Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/10-75279642-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279642
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279642
    reference: chr 10
allele count: 2
allele frequency: 1.680898272036576e-5
allele num: 118984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.656C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2137G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3151G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2591G>T
  hgvsp: ENSP00000345216.4:p.Arg864Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1024G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1024G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-146G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.754C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2591G>T
  hgvsp: ENSP00000386080.1:p.Arg864Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2137G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.137G>T
  hgvsp: ENSP00000407368.2:p.Arg46Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2141G>T
  hgvsp: ENSP00000408714.1:p.Arg714Leu
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32208
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg864Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

10-75279642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279642
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279642
    reference: chr 10
allele count: 9
allele frequency: 7.564042224164593e-5
allele num: 118984
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2591G>A
  hgvsp: ENSP00000345216.4:p.Arg864His
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.754C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2137G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3151G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2591G>A
  hgvsp: ENSP00000386080.1:p.Arg864His
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1024G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1024G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.137G>A
  hgvsp: ENSP00000407368.2:p.Arg46His
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-146G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2141G>A
  hgvsp: ENSP00000408714.1:p.Arg714His
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2137G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.656C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg864His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

10-75279643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279643
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279643
    reference: chr 10
allele count: 2
allele frequency: 1.682029200026912e-5
allele num: 118904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3150C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2138C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.657G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2138C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.136C>T
  hgvsp: ENSP00000407368.2:p.Arg46Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2590C>T
  hgvsp: ENSP00000386080.1:p.Arg864Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-147C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2590C>T
  hgvsp: ENSP00000345216.4:p.Arg864Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1023C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1023C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2140C>T
  hgvsp: ENSP00000408714.1:p.Arg714Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.755G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg864Cys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

10-75279653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279653
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279653
    reference: chr 10
allele count: 3
allele frequency: 2.546689303904923e-5
allele num: 117800
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2580C>G
  hgvsp: ENSP00000345216.4:p.Ser860Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.126C>G
  hgvsp: ENSP00000407368.2:p.Ser42Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.765G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3140C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2148C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1013C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2580C>G
  hgvsp: ENSP00000386080.1:p.Ser860Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2148C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2130C>G
  hgvsp: ENSP00000408714.1:p.Ser710Arg
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-157C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.667G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1013C>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser860Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

10-75279657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279657
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279657
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 116988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2576G>A
  hgvsp: ENSP00000386080.1:p.Arg859Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2126G>A
  hgvsp: ENSP00000408714.1:p.Arg709Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1009G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3136G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2576G>A
  hgvsp: ENSP00000345216.4:p.Arg859Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-161G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2152G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1009G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.671C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.122G>A
  hgvsp: ENSP00000407368.2:p.Arg41Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.769C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2152G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg859Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

10-75279658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279658
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279658
    reference: chr 10
allele count: 1
allele frequency: 8.548615979072987e-6
allele num: 116978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.672G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1008C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-162C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000597958
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000597958.1:n.770G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2575C>T
  hgvsp: ENSP00000345216.4:p.Arg859Trp
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.121C>T
  hgvsp: ENSP00000407368.2:p.Arg41Trp
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2153C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1008C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2125C>T
  hgvsp: ENSP00000408714.1:p.Arg709Trp
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2575C>T
  hgvsp: ENSP00000386080.1:p.Arg859Trp
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2153C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3135C>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg859Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

10-75279666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279666
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279666
    reference: chr 10
allele count: 6
allele frequency: 5.180184069207259e-5
allele num: 115826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-170G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+1000G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2161G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2117G>A
  hgvsp: ENSP00000408714.1:p.Arg706Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.113G>A
  hgvsp: ENSP00000407368.2:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.680C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+1000G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2567G>A
  hgvsp: ENSP00000345216.4:p.Arg856Gln
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2161G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3127G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2567G>A
  hgvsp: ENSP00000386080.1:p.Arg856Gln
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg856Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

10-75279667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279667
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279667
    reference: chr 10
allele count: 1
allele frequency: 8.644835575227359e-6
allele num: 115676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2566C>T
  hgvsp: ENSP00000386080.1:p.Arg856Ter
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.681G>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2116C>T
  hgvsp: ENSP00000408714.1:p.Arg706Ter
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2162C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+999C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.112C>T
  hgvsp: ENSP00000407368.2:p.Arg38Ter
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3126C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2566C>T
  hgvsp: ENSP00000345216.4:p.Arg856Ter
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-171C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+999C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2162C>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29877
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg856Ter
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

10-75279688-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279688
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279688
    reference: chr 10
allele count: 1
allele frequency: 9.200478424878094e-6
allele num: 108690
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2545A>G
  hgvsp: ENSP00000345216.4:p.Lys849Glu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2183A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2183A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3105A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2545A>G
  hgvsp: ENSP00000386080.1:p.Lys849Glu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2095A>G
  hgvsp: ENSP00000408714.1:p.Lys699Glu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+978A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+978A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-192A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.91A>G
  hgvsp: ENSP00000407368.2:p.Lys31Glu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.702T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys849Glu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

10-75279690-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279690
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279690
    reference: chr 10
allele count: 1
allele frequency: 9.265951335223587e-6
allele num: 107922
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2543A>G
  hgvsp: ENSP00000345216.4:p.Asp848Gly
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+976A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2543A>G
  hgvsp: ENSP00000386080.1:p.Asp848Gly
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3103A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2185A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2093A>G
  hgvsp: ENSP00000408714.1:p.Asp698Gly
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.89A>G
  hgvsp: ENSP00000407368.2:p.Asp30Gly
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2185A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-194A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+976A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.704T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp848Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

10-75279691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279691
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279691
    reference: chr 10
allele count: 2
allele frequency: 1.861677371311552e-5
allele num: 107430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2092G>A
  hgvsp: ENSP00000408714.1:p.Asp698Asn
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-195G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.705C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2542G>A
  hgvsp: ENSP00000345216.4:p.Asp848Asn
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+975G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+975G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2542G>A
  hgvsp: ENSP00000386080.1:p.Asp848Asn
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2186G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.88G>A
  hgvsp: ENSP00000407368.2:p.Asp30Asn
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2186G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3102G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24375
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp848Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

10-75279692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279692
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279692
    reference: chr 10
allele count: 1
allele frequency: 9.351037965214139e-6
allele num: 106940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2187C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.706G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2541C>T
  hgvsp: ENST00000339859.4:c.2541C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.87C>T
  hgvsp: ENST00000422491.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+974C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+974C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-196C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2091C>T
  hgvsp: ENST00000428547.1:c.2091C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2541C>T
  hgvsp: ENST00000408019.1:c.2541C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3101C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2187C>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val847Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

10-75279693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279693
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279693
    reference: chr 10
allele count: 1
allele frequency: 9.379631192901495e-6
allele num: 106614
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2540T>C
  hgvsp: ENSP00000345216.4:p.Val847Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2090T>C
  hgvsp: ENSP00000408714.1:p.Val697Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2188T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2540T>C
  hgvsp: ENSP00000386080.1:p.Val847Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.86T>C
  hgvsp: ENSP00000407368.2:p.Val29Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2188T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.707A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3100T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+973T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-197T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+973T>C
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23967
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val847Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP

10-75279701-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279701
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279701
    reference: chr 10
allele count: 1
allele frequency: 9.758192002185835e-6
allele num: 102478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+965A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+965A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.78A>T
  hgvsp: ENSP00000407368.2:p.Arg26Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3092A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2532A>T
  hgvsp: ENSP00000345216.4:p.Arg844Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2196A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-205A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2082A>T
  hgvsp: ENSP00000408714.1:p.Arg694Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2532A>T
  hgvsp: ENSP00000386080.1:p.Arg844Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2196A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.715T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20831
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg844Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

10-75279710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279710
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279710
    reference: chr 10
allele count: 4
allele frequency: 4.170315692897953e-5
allele num: 95916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.724C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+956G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2205G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2523G>A
  hgvsp: ENST00000408019.1:c.2523G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2523G>A
  hgvsp: ENST00000339859.4:c.2523G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2073G>A
  hgvsp: ENST00000428547.1:c.2073G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-214G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.69G>A
  hgvsp: ENST00000422491.2:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2205G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+956G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3083G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16583
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr841Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

10-75279711-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279711
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279711
    reference: chr 10
allele count: 3
allele frequency: 3.12656328164082e-5
allele num: 95952
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2522C>T
  hgvsp: ENSP00000345216.4:p.Thr841Met
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2072C>T
  hgvsp: ENSP00000408714.1:p.Thr691Met
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-215C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.68C>T
  hgvsp: ENSP00000407368.2:p.Thr23Met
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.725G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+955C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2522C>T
  hgvsp: ENSP00000386080.1:p.Thr841Met
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2206C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3082C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2206C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+955C>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr841Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/10-75279720-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279720
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279720
    reference: chr 10
allele count: 1
allele frequency: 1.108082352680451e-5
allele num: 90246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3073G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2513G>T
  hgvsp: ENSP00000345216.4:p.Ser838Ile
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2215G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+946G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.734C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2215G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2513G>T
  hgvsp: ENSP00000386080.1:p.Ser838Ile
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.59G>T
  hgvsp: ENSP00000407368.2:p.Ser20Ile
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2063G>T
  hgvsp: ENSP00000408714.1:p.Ser688Ile
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+946G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-224G>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser838Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

10-75279748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279748
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279748
    reference: chr 10
allele count: 1
allele frequency: 1.616344475334583e-5
allele num: 61868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2035A>G
  hgvsp: ENSP00000408714.1:p.Lys679Glu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2485A>G
  hgvsp: ENSP00000345216.4:p.Lys829Glu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+918A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.762T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+918A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3045A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2485A>G
  hgvsp: ENSP00000386080.1:p.Lys829Glu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2243A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.31A>G
  hgvsp: ENSP00000407368.2:p.Lys11Glu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-252A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2243A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys829Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

10-75279749-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279749
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279749
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 60564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2244T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2484T>C
  hgvsp: ENST00000339859.4:c.2484T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-253T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+917T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3044T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+917T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.763A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2244T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.30T>C
  hgvsp: ENST00000422491.2:c.30T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2484T>C
  hgvsp: ENST00000408019.1:c.2484T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2034T>C
  hgvsp: ENST00000428547.1:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22115
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2484T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/10-75279759-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279759
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279758
    reference: chr 10
allele count: 1
allele frequency: 2.003927698288646e-5
allele num: 49902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2255delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+906delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+906delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2483-10delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3043-10delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.777delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2033-10delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2483-10delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2255delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-10delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-254-10delT
  variant of: http://identifiers.org/hgnc/23513
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21545
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: CA
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/10-75279780-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279780
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279779
    reference: chr 10
allele count: 2
allele frequency: 6.025911419102139e-5
allele num: 33190
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2483-31delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-254-31delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2483-31delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.795delA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2276delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+885delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2276delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-31delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2033-31delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+885delT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3043-31delT
  variant of: http://identifiers.org/hgnc/23513
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16044
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: CA
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/10-75279783-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279783
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279783
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 26020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2078-2278T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-254-33T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2483-33T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2483-33T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.797A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3043-33T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-33T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2033-33T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1044-2278T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+883T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+883T>G
  variant of: http://identifiers.org/hgnc/23513
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15067
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

10-75279794-CAAATAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75279794
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75279788
    reference: chr 10
allele count: 0
allele frequency: 0.0e0
allele num: 21734
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2483-50_2483-45delTTATTT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3043-50_3043-45delTTATTT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+866_1206+871delTTATTT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221817
  ensembl transcript: ENST00000600206
  gene symbol: RP11-137L10.6
  hgvsc: ENST00000600206.1:n.818_823delTAAAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2033-50_2033-45delTTATTT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+866_1874+871delTTATTT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2483-50_2483-45delTTATTT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-50_29-45delTTATTT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-254-50_-254-45delTTATTT
  variant of: http://identifiers.org/hgnc/23513
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14784
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: CAAATAA
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

10-75280624-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280624
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280624
    reference: chr 10
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+42A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2717A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3042+42A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2717A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-255+42A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2032+42A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2482+42A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2482+42A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+42A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-874A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

10-75280639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280639
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280639
    reference: chr 10
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+27T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2482+27T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2032+27T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2702T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2702T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+27T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-255+27T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3042+27T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2482+27T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-889T>C
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

10-75280646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280646
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280646
    reference: chr 10
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3042+20A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2482+20A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+20A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+20A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-896A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-255+20A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2695A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2695A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2482+20A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2032+20A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

10-75280653-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280653
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280654
    reference: chr 10
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3042+12dupT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2687dupT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+12dupT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2482+12dupT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-255+12dupT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2032+12dupT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+12dupT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2687dupT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2482+12dupT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-904dupT
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

10-75280653-TAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280653
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280651
    reference: chr 10
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2686_2077+2687delCT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3042+11_3042+12delCT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+11_1874+12delCT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-905_29-904delCT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-255+11_-255+12delCT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+11_1206+12delCT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2482+11_2482+12delCT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2482+11_2482+12delCT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2686_1043+2687delCT
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2032+11_2032+12delCT
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: TAG
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

10-75280661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280661
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280661
    reference: chr 10
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-911G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2482+5G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2482+5G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1874+5G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2680G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-255+5G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1206+5G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2032+5G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3042+5G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2680G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: c.2482+5G>A
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

10-75280668-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280668
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280668
    reference: chr 10
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1204T>C
  hgvsp: ENSP00000473466.1:p.Ile402Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2673T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2030T>C
  hgvsp: ENSP00000408714.1:p.Ile677Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2480T>C
  hgvsp: ENSP00000345216.4:p.Ile827Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1872T>C
  hgvsp: ENSP00000399972.1:p.Ile625Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3040T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-257T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-918T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2480T>C
  hgvsp: ENSP00000386080.1:p.Ile827Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2673T>C
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile827Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

10-75280676-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280676
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280676
    reference: chr 10
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2472T>C
  hgvsp: ENST00000408019.1:c.2472T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3032T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2022T>C
  hgvsp: ENST00000428547.1:c.2022T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-926T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2472T>C
  hgvsp: ENST00000339859.4:c.2472T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-265T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1864T>C
  hgvsp: ENST00000424265.1:c.1864T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1196T>C
  hgvsp: ENST00000466048.2:c.1196T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2665T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2665T>C
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn824Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

10-75280677-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280677
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280677
    reference: chr 10
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2664A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1195A>G
  hgvsp: ENSP00000473466.1:p.Asn399Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2021A>G
  hgvsp: ENSP00000408714.1:p.Asn674Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-266A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2471A>G
  hgvsp: ENSP00000345216.4:p.Asn824Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2471A>G
  hgvsp: ENSP00000386080.1:p.Asn824Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1863A>G
  hgvsp: ENSP00000399972.1:p.Asn622Ser
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2664A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3031A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-927A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn824Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

10-75280682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280682
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280682
    reference: chr 10
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1858C>T
  hgvsp: ENST00000424265.1:c.1858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1190C>T
  hgvsp: ENST00000466048.2:c.1190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2466C>T
  hgvsp: ENST00000339859.4:c.2466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2016C>T
  hgvsp: ENST00000428547.1:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-932C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2466C>T
  hgvsp: ENST00000408019.1:c.2466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2659C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-271C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3026C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2659C>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu822Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

10-75280684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280684
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280684
    reference: chr 10
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2014C>T
  hgvsp: ENSP00000408714.1:p.Leu672Phe
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1188C>T
  hgvsp: ENSP00000473466.1:p.Leu397Phe
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2657C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-273C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2657C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2464C>T
  hgvsp: ENSP00000345216.4:p.Leu822Phe
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1856C>T
  hgvsp: ENSP00000399972.1:p.Leu620Phe
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-934C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2464C>T
  hgvsp: ENSP00000386080.1:p.Leu822Phe
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3024C>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu822Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

10-75280692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280692
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280692
    reference: chr 10
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-281C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1848C>T
  hgvsp: ENSP00000399972.1:p.Ala617Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2456C>T
  hgvsp: ENSP00000386080.1:p.Ala819Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2649C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2649C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2456C>T
  hgvsp: ENSP00000345216.4:p.Ala819Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3016C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1180C>T
  hgvsp: ENSP00000473466.1:p.Ala394Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2006C>T
  hgvsp: ENSP00000408714.1:p.Ala669Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-942C>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala819Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

10-75280693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280693
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280693
    reference: chr 10
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2005G>A
  hgvsp: ENSP00000408714.1:p.Ala669Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1847G>A
  hgvsp: ENSP00000399972.1:p.Ala617Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2648G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-943G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2455G>A
  hgvsp: ENSP00000386080.1:p.Ala819Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2455G>A
  hgvsp: ENSP00000345216.4:p.Ala819Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1179G>A
  hgvsp: ENSP00000473466.1:p.Ala394Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2648G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-282G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3015G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala819Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

10-75280696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280696
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280696
    reference: chr 10
allele count: 4
allele frequency: 3.312355084465055e-5
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-946G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2645G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1176G>A
  hgvsp: ENSP00000473466.1:p.Ala393Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-285G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2452G>A
  hgvsp: ENSP00000386080.1:p.Ala818Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1844G>A
  hgvsp: ENSP00000399972.1:p.Ala616Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2452G>A
  hgvsp: ENSP00000345216.4:p.Ala818Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.2002G>A
  hgvsp: ENSP00000408714.1:p.Ala668Thr
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2645G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.3012G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala818Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

10-75280712-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280712
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280712
    reference: chr 10
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2436G>A
  hgvsp: ENST00000408019.1:c.2436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2436G>A
  hgvsp: ENST00000339859.4:c.2436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2996G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2629G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2629G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1828G>A
  hgvsp: ENST00000424265.1:c.1828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1986G>A
  hgvsp: ENST00000428547.1:c.1986G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1160G>A
  hgvsp: ENST00000466048.2:c.1160G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-962G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-301G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln812Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

10-75280726-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280726
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280726
    reference: chr 10
allele count: 4
allele frequency: 3.312300226892566e-5
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2615C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2422C>A
  hgvsp: ENSP00000386080.1:p.Leu808Ile
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2422C>A
  hgvsp: ENSP00000345216.4:p.Leu808Ile
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-976C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2615C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-315C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1814C>A
  hgvsp: ENSP00000399972.1:p.Leu606Ile
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2982C>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1972C>A
  hgvsp: ENSP00000408714.1:p.Leu658Ile
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1146C>A
  hgvsp: ENSP00000473466.1:p.Leu383Ile
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu808Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

10-75280728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280728
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280728
    reference: chr 10
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1812C>T
  hgvsp: ENSP00000399972.1:p.Ser605Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-978C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-317C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2980C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1970C>T
  hgvsp: ENSP00000408714.1:p.Ser657Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1144C>T
  hgvsp: ENSP00000473466.1:p.Ser382Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2420C>T
  hgvsp: ENSP00000345216.4:p.Ser807Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2613C>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2420C>T
  hgvsp: ENSP00000386080.1:p.Ser807Leu
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2613C>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser807Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

10-75280728-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280728
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280728
    reference: chr 10
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1812C>G
  hgvsp: ENSP00000399972.1:p.Ser605Ter
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1970C>G
  hgvsp: ENSP00000408714.1:p.Ser657Ter
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2420C>G
  hgvsp: ENSP00000345216.4:p.Ser807Ter
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-317C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-978C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1144C>G
  hgvsp: ENSP00000473466.1:p.Ser382Ter
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2980C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2420C>G
  hgvsp: ENSP00000386080.1:p.Ser807Ter
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2613C>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2613C>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser807Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

10-75280733-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280733
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280733
    reference: chr 10
allele count: 2
allele frequency: 1.656204971927326e-5
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1807A>G
  hgvsp: ENST00000424265.1:c.1807A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-322A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1965A>G
  hgvsp: ENST00000428547.1:c.1965A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1139A>G
  hgvsp: ENST00000466048.2:c.1139A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2415A>G
  hgvsp: ENST00000408019.1:c.2415A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2975A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2415A>G
  hgvsp: ENST00000339859.4:c.2415A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2608A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-983A>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2608A>G
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu805Glu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/10-75280737-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280737
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280737
    reference: chr 10
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2971T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1803T>G
  hgvsp: ENSP00000399972.1:p.Phe602Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1135T>G
  hgvsp: ENSP00000473466.1:p.Phe379Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2411T>G
  hgvsp: ENSP00000386080.1:p.Phe804Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-987T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1961T>G
  hgvsp: ENSP00000408714.1:p.Phe654Cys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2604T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-326T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2604T>G
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2411T>G
  hgvsp: ENSP00000345216.4:p.Phe804Cys
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe804Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

10-75280739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280739
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280739
    reference: chr 10
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2602G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2409G>A
  hgvsp: ENST00000339859.4:c.2409G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1801G>A
  hgvsp: ENST00000424265.1:c.1801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2602G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2969G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-328G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1133G>A
  hgvsp: ENST00000466048.2:c.1133G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2409G>A
  hgvsp: ENST00000408019.1:c.2409G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-989G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1959G>A
  hgvsp: ENST00000428547.1:c.1959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val803Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

10-75280740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280740
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280740
    reference: chr 10
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1800T>C
  hgvsp: ENSP00000399972.1:p.Val601Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1958T>C
  hgvsp: ENSP00000408714.1:p.Val653Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2968T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2408T>C
  hgvsp: ENSP00000345216.4:p.Val803Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-329T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1132T>C
  hgvsp: ENSP00000473466.1:p.Val378Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2601T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2601T>C
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2408T>C
  hgvsp: ENSP00000386080.1:p.Val803Ala
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-990T>C
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val803Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

10-75280746-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280746
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280746
    reference: chr 10
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2402A>T
  hgvsp: ENSP00000345216.4:p.Glu801Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1126A>T
  hgvsp: ENSP00000473466.1:p.Glu376Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1952A>T
  hgvsp: ENSP00000408714.1:p.Glu651Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2595A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-996A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2595A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2962A>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1794A>T
  hgvsp: ENSP00000399972.1:p.Glu599Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2402A>T
  hgvsp: ENSP00000386080.1:p.Glu801Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-335A>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu801Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

10-75280766-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280766
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280767
    reference: chr 10
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2381dupA
  hgvsp: ENSP00000345216.4:p.Arg795GlufsTer11
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-1017dupA
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2574dupA
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1931dupA
  hgvsp: ENSP00000408714.1:p.Arg645GlufsTer11
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2941dupA
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1773dupA
  hgvsp: ENSP00000399972.1:p.Arg593GlufsTer11
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1105dupA
  hgvsp: ENSP00000473466.1:p.Arg370GlufsTer11
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-356dupA
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2381dupA
  hgvsp: ENSP00000386080.1:p.Arg795GlufsTer11
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2574dupA
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9208
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg795GlufsTer11
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

10-75280766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280766
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280766
    reference: chr 10
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2382G>A
  hgvsp: ENST00000408019.1:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2382G>A
  hgvsp: ENST00000339859.4:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1932G>A
  hgvsp: ENST00000428547.1:c.1932G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1774G>A
  hgvsp: ENST00000424265.1:c.1774G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-1016G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1106G>A
  hgvsp: ENST00000466048.2:c.1106G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2575G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-355G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2942G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2575G>A
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5783
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu794Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

10-75280768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280768
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280768
    reference: chr 10
allele count: 3
allele frequency: 2.485089463220676e-5
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1930G>A
  hgvsp: ENSP00000408714.1:p.Glu644Lys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1104G>A
  hgvsp: ENSP00000473466.1:p.Glu369Lys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-357G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2940G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2380G>A
  hgvsp: ENSP00000386080.1:p.Glu794Lys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2573G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2380G>A
  hgvsp: ENSP00000345216.4:p.Glu794Lys
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-1018G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2573G>A
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1772G>A
  hgvsp: ENSP00000399972.1:p.Glu592Lys
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu794Lys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/10-75280773-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75280773
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 75280773
    reference: chr 10
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000498143
  gene symbol: USP54
  hgvsc: ENST00000498143.1:n.2935G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000408714
  ensembl transcript: ENST00000428547
  gene symbol: USP54
  hgvsc: ENST00000428547.1:c.1925G>T
  hgvsp: ENSP00000408714.1:p.Gly642Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000386080
  ensembl transcript: ENST00000408019
  gene symbol: USP54
  hgvsc: ENST00000408019.1:c.2375G>T
  hgvsp: ENSP00000386080.1:p.Gly792Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000473466
  ensembl transcript: ENST00000466048
  gene symbol: USP54
  hgvsc: ENST00000466048.2:c.1099G>T
  hgvsp: ENSP00000473466.1:p.Gly367Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000404644
  ensembl transcript: ENST00000418501
  gene symbol: USP54
  hgvsc: ENST00000418501.1:c.1043+2568G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000378290
  ensembl transcript: ENST00000394811
  gene symbol: USP54
  hgvsc: ENST00000394811.2:c.-362G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000345216
  ensembl transcript: ENST00000339859
  gene symbol: USP54
  hgvsc: ENST00000339859.4:c.2375G>T
  hgvsp: ENSP00000345216.4:p.Gly792Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000399972
  ensembl transcript: ENST00000424265
  gene symbol: USP54
  hgvsc: ENST00000424265.1:c.1767G>T
  hgvsp: ENSP00000399972.1:p.Gly590Val
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl transcript: ENST00000497106
  gene symbol: USP54
  hgvsc: ENST00000497106.1:n.2077+2568G>T
  variant of: http://identifiers.org/hgnc/23513
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166348
  ensembl protein: ENSP00000407368
  ensembl transcript: ENST00000422491
  gene symbol: USP54
  hgvsc: ENST00000422491.2:c.29-1023G>T
  variant of: http://identifiers.org/hgnc/23513
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly792Val
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5742
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46346
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.504e1

DP
type: SiteQuality
SIO_000300: 1.491622e6

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 2.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

GenotypeDepth
all individuals: 662
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5895
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
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: 8618
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.871e1

QD
type: SiteQuality
SIO_000300: 1.454e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.117e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.313e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

DP
type: SiteQuality
SIO_000300: 1.502661e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 17143
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47176
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1435
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
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: 8622
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.336e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.394e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.510374e6

MQRankSum
type: SiteQuality
SIO_000300: -1.158e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

QD
type: SiteQuality
SIO_000300: 1.082e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeDepth
all individuals: 17212
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.639294827186268e-4
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

QD
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SIO_000300: 1.073e1

MQ
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SIO_000300: 5.957e1

InbreedingCoeff
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SIO_000300: 1.3e-3

BaseQRankSum
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SIO_000300: -1.347e0

MQRankSum
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SIO_000300: 5.98e-1

DP
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SIO_000300: 1.511854e6

FS
type: SiteQuality
SIO_000300: 5.851e0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.767e0

InbreedingCoeff
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SIO_000300: 1.4e-3

MQ
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SIO_000300: 6.114e1

VQSLOD
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SIO_000300: 1.47e0

BaseQRankSum
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SIO_000300: 1.02e0

ClippingRankSum
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SIO_000300: -8.64e-1

ReadPosRankSum
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SIO_000300: -1.552e0

MQRankSum
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SIO_000300: -1.033e0

QD
type: SiteQuality
SIO_000300: 1.145e1

DP
type: SiteQuality
SIO_000300: 1.512879e6

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
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SIO_000300: 1.515377e6

BaseQRankSum
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SIO_000300: 2.81e-1

MQRankSum
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SIO_000300: 8.78e-1

MQ
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SIO_000300: 5.931e1

FS
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SIO_000300: 1.4515e1

VQSLOD
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SIO_000300: -2.178e0

QD
type: SiteQuality
SIO_000300: 1.33e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.996e-1

FS
type: SiteQuality
SIO_000300: 1.032e1

MQRankSum
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SIO_000300: 6.56e-1

DP
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SIO_000300: 1.516293e6

BaseQRankSum
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SIO_000300: -1.152e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
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allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: -6.5e-1

ReadPosRankSum
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MQ
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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DP
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

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

FS
type: SiteQuality
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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SIO_000300: 1.146e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 66516
num of homozygotes: 0

European (Finnish)
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East Asian
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South Asian
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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African
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South Asian
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Other
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East Asian
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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European (Finnish)
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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DP
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16462
num of homozygotes: 0

East Asian
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European (Finnish)
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Other
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Latino
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African
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European (Non-Finnish)
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allele num: 66402
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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DP
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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East Asian
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African
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European (Non-Finnish)
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Latino
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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DP
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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Other
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East Asian
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African
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 9.75e1
variant carriers: 1

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.506849e6

ClippingRankSum
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MQ
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SIO_000300: 6.0e1

FS
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InbreedingCoeff
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SIO_000300: 1.0e-4

ReadPosRankSum
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MQRankSum
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SIO_000300: 4.28e-1

QD
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SIO_000300: 1.095e1

BaseQRankSum
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SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.030027573250917e-5
allele num: 66006
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
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MQ
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SIO_000300: 5.96e1

FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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SIO_000300: 2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
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SIO_000300: -1.76e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.212011029300367e-4
allele num: 66006
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 888
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.266e1

VQSLOD
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MQ
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SIO_000300: 5.96e1

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.3e-3

BaseQRankSum
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DP
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SIO_000300: 1.504529e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 1250
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.169031462060457e-5
allele num: 16210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516208266367468e-5
allele num: 65954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

ReadPosRankSum
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SIO_000300: 2.42e0

FS
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SIO_000300: 1.121e0

VQSLOD
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DP
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SIO_000300: 1.500368e6

QD
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SIO_000300: 1.152e1

MQRankSum
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SIO_000300: 1.4e0

InbreedingCoeff
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SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 2
allele frequency: 1.248595330253465e-4
allele num: 16018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.893632159373888e-5
allele num: 11244
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65426
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.485022e6

InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.99e1

QD
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SIO_000300: 1.141e1

ReadPosRankSum
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SIO_000300: 1.27e0

ClippingRankSum
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SIO_000300: -8.04e-1

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65004
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.187e0

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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QD
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SIO_000300: 1.49e1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

Other
type: Population
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African
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allele num: 9502
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East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64422
num of homozygotes: 0

European (Finnish)
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South Asian
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allele num: 15656
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African
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allele frequency: 5.2999788000848e-4
allele num: 9434
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.651800462504129e-4
allele num: 6054
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South Asian
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Other
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European (Non-Finnish)
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DP
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FS
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 10122
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South Asian
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allele count: 1
allele frequency: 6.710508656556167e-5
allele num: 14902
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European (Finnish)
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allele count: 0
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allele num: 5622
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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VQSLOD
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BaseQRankSum
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DP
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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SIO_000300: 5.982e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.672240802675585e-5
allele num: 59800
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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DP
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SIO_000300: 1.338624e6

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.809627216793341e-4
allele num: 5526
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.679712433231431e-5
allele num: 59534
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South Asian
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African
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5506
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Latino
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.687023415885013e-5
allele num: 59276
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South Asian
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 8916
num of homozygotes: 0

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

East Asian
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Latino
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South Asian
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European (Non-Finnish)
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allele num: 56746
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European (Finnish)
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Other
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VQSLOD
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

DP
type: SiteQuality
SIO_000300: 1.264735e6

GenotypeQuality
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1246
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 24141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7012
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.420721374969741e-4
allele num: 8262
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.456664238892935e-4
allele num: 13730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.184189e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

GenotypeQuality
all individuals: 796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20841
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 987
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.27715996578272e-4
allele num: 7014
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.328e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

DP
type: SiteQuality
SIO_000300: 1.181575e6

FS
type: SiteQuality
SIO_000300: 1.557e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.165e1

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25466
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.514277126540426e-5
allele num: 13308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49684
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

MQRankSum
type: SiteQuality
SIO_000300: -1.408e0

VQSLOD
type: SiteQuality
SIO_000300: -3.325e0

DP
type: SiteQuality
SIO_000300: 1.108972e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6718
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34932
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7448
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.48015873015873e-4
allele num: 4032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.02436e5

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.041e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

GenotypeDepth
all individuals: 573
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.245e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

DP
type: SiteQuality
SIO_000300: 7.9174e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 4.86e0

GenotypeQuality
all individuals: 266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14143
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.839066339066339e-5
allele num: 26048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2568
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.14376e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.194e1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

GenotypeQuality
all individuals: 1235
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1229
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29114
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 5.952380952380953e-4
allele num: 3360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.67533e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 3.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.756e0

GenotypeQuality
all individuals: 631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 1965
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GenotypeQuality
all individuals: 31680
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variant carriers: 0

GenotypeQuality
all individuals: 7783
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12108
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -6.4e-2

ReadPosRankSum
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SIO_000300: -9.370000000000001e-1

MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 1.205e1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.09558e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2010
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
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MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
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SIO_000300: 2.56e0

ReadPosRankSum
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SIO_000300: 3.58e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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MQ
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SIO_000300: 5.015e1

ClippingRankSum
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SIO_000300: 3.58e-1

BaseQRankSum
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QD
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SIO_000300: 5.59e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

South Asian
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allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

DP
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SIO_000300: 2.275608e6

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 9.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.546e0

DP
type: SiteQuality
SIO_000300: 2.279808e6

FS
type: SiteQuality
SIO_000300: 1.00556e2

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: -4.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.313e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
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: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

FS
type: SiteQuality
SIO_000300: 8.843999999999999e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.280177e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9802
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
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MQ
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ReadPosRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

Other
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East Asian
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele num: 66716
num of homozygotes: 0

Latino
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.498756032493031e-5
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African
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South Asian
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European (Finnish)
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East Asian
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Latino
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allele frequency: 0.0e0
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Other
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MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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South Asian
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African
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East Asian
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MQ
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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South Asian
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Other
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QD
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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African
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South Asian
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Other
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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Other
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Latino
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Other
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European (Finnish)
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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DP
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.01e-1

BaseQRankSum
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SIO_000300: -6.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.797e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

QD
type: SiteQuality
SIO_000300: 1.653e1

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 2.281722e6

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 66732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
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SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.492e0

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.281623e6

FS
type: SiteQuality
SIO_000300: 2.809e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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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: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
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: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.737e0

DP
type: SiteQuality
SIO_000300: 2.281423e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
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: 8626
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 9802
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

FS
type: SiteQuality
SIO_000300: 2.737e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.153e1

DP
type: SiteQuality
SIO_000300: 2.281423e6

GenotypeQuality
all individuals: 3
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
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
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.67e-1

DP
type: SiteQuality
SIO_000300: 2.281246e6

FS
type: SiteQuality
SIO_000300: 3.178e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

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

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.41e0

ClippingRankSum
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SIO_000300: 1.04e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
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: 900
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

QD
type: SiteQuality
SIO_000300: 1.206e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.097e0

FS
type: SiteQuality
SIO_000300: 2.6242e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.28108e6

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9217
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4663
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5794
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2087
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.280883e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.253e0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

FS
type: SiteQuality
SIO_000300: 9.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.015e1

MQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3660
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18331
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.280115e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 6.025e1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 1.181e1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3660
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18331
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.025e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 2.280115e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13167
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 18322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.481894150417827e-4
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 2.279962e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 1.101e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.651e0

QD
type: SiteQuality
SIO_000300: 1.183e1

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

GenotypeQuality
all individuals: 18317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 7.5e0
variant carriers: 0