7-48147066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147066
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147066
    reference: chr 7
allele count: 4
allele frequency: 3.320714617785747e-5
allele num: 120456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.755C>T
  hgvsp: ENSP00000378931.4:p.Ser252Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*252C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*252C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.344C>T
  hgvsp: ENSP00000406224.2:p.Ser115Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2546C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.755C>T
  hgvsp: ENSP00000342878.4:p.Ser252Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*252C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.621C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.755C>T
  hgvsp: ENSP00000330032.4:p.Ser252Leu
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser252Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-48147075-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147075
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147075
    reference: chr 7
allele count: 92
allele frequency: 7.667305608800734e-4
allele num: 119990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.353C>T
  hgvsp: ENSP00000406224.2:p.Ala118Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.764C>T
  hgvsp: ENSP00000342878.4:p.Ala255Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*261C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.764C>T
  hgvsp: ENSP00000378931.4:p.Ala255Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*261C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*261C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2555C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.630C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.764C>T
  hgvsp: ENSP00000330032.4:p.Ala255Val
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala255Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

7-48147076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147076
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147076
    reference: chr 7
allele count: 81
allele frequency: 6.751012651897784e-4
allele num: 119982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.631C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*262C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.765C>T
  hgvsp: ENST00000341253.4:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.765C>T
  hgvsp: ENST00000331803.4:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*262C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.765C>T
  hgvsp: ENST00000395564.4:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.354C>T
  hgvsp: ENST00000429491.2:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*262C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2556C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13427
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12139
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala255Ala
num of homozygotes: 1
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-48147077-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147077
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147077
    reference: chr 7
allele count: 2
allele frequency: 1.67238063383226e-5
allele num: 119590
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.766G>A
  hgvsp: ENSP00000330032.4:p.Ala256Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.766G>A
  hgvsp: ENSP00000342878.4:p.Ala256Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.632G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*263G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*263G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*263G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.766G>A
  hgvsp: ENSP00000378931.4:p.Ala256Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2557G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.355G>A
  hgvsp: ENSP00000406224.2:p.Ala119Thr
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17237
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala256Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

7-48147081-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147081
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147081
    reference: chr 7
allele count: 2
allele frequency: 1.674565031733007e-5
allele num: 119434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.770T>C
  hgvsp: ENSP00000378931.4:p.Met257Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.636T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2561T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.359T>C
  hgvsp: ENSP00000406224.2:p.Met120Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.770T>C
  hgvsp: ENSP00000342878.4:p.Met257Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.770T>C
  hgvsp: ENSP00000330032.4:p.Met257Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*267T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*267T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*267T>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17237
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met257Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

7-48147087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147087
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147087
    reference: chr 7
allele count: 1
allele frequency: 8.42800795603951e-6
allele num: 118652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.776G>A
  hgvsp: ENSP00000330032.4:p.Ser259Asn
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*273G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2567G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.776G>A
  hgvsp: ENSP00000342878.4:p.Ser259Asn
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.642G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*273G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.776G>A
  hgvsp: ENSP00000378931.4:p.Ser259Asn
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.365G>A
  hgvsp: ENSP00000406224.2:p.Ser122Asn
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*273G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser259Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-48147088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147088
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147088
    reference: chr 7
allele count: 1
allele frequency: 8.438248894589395e-6
allele num: 118508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.366C>T
  hgvsp: ENST00000429491.2:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.777C>T
  hgvsp: ENST00000341253.4:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*274C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*274C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.643C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.777C>T
  hgvsp: ENST00000395564.4:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2568C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.777C>T
  hgvsp: ENST00000331803.4:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*274C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12013
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser259Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

7-48147089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147089
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147089
    reference: chr 7
allele count: 2
allele frequency: 1.688647224708286e-5
allele num: 118438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.778G>A
  hgvsp: ENSP00000378931.4:p.Ala260Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.367G>A
  hgvsp: ENSP00000406224.2:p.Ala123Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*275G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.778G>A
  hgvsp: ENSP00000330032.4:p.Ala260Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.778G>A
  hgvsp: ENSP00000342878.4:p.Ala260Thr
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.644G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*275G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2569G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*275G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala260Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-48147094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147094
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147094
    reference: chr 7
allele count: 6
allele frequency: 5.086211281216622e-5
allele num: 117966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2574C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*280C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.649C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.783C>T
  hgvsp: ENST00000341253.4:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.783C>T
  hgvsp: ENST00000395564.4:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.372C>T
  hgvsp: ENST00000429491.2:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.783C>T
  hgvsp: ENST00000331803.4:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*280C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*280C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys261Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-48147111-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147111
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147111
    reference: chr 7
allele count: 6
allele frequency: 5.15720891853329e-5
allele num: 116342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+7G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+7G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+7G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+7G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+7G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+7G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+7G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+7G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+7G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17236
  bin: 9.75e1
  variant carriers: 6
hgvs: c.793+7G>A
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-48147116-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147116
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147116
    reference: chr 7
allele count: 1
allele frequency: 8.635131167642436e-6
allele num: 115806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+12T>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS

7-48147121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147121
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147121
    reference: chr 7
allele count: 3
allele frequency: 2.616476826736905e-5
allele num: 114658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+17G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+17G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+17G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+17G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+17G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+17G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+17G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+17G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+17G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17230
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11581
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

7-48147127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147127
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147127
    reference: chr 7
allele count: 2
allele frequency: 1.756203789887778e-5
allele num: 113882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+23C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+23C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+23C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+23C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+23C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+23C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+23C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+23C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+23C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17231
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

7-48147128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147128
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147128
    reference: chr 7
allele count: 2
allele frequency: 1.758272672926117e-5
allele num: 113748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+24G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+24G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+24G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+24G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+24G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+24G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+24G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+24G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+24G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-48147130-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147130
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147130
    reference: chr 7
allele count: 1
allele frequency: 8.816942636971204e-6
allele num: 113418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+26C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+26C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+26C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+26C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+26C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+26C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+26C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+26C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+26C>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

7-48147130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147130
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147130
    reference: chr 7
allele count: 11
allele frequency: 9.698636900668324e-5
allele num: 113418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+26C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+26C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+26C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+26C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+26C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+26C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+26C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+26C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+26C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17237
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-48147131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147131
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147131
    reference: chr 7
allele count: 5
allele frequency: 4.411738754477915e-5
allele num: 113334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+27G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+27G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+27G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+27G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+27G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+27G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+27G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+27G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+27G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

7-48147134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147134
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147134
    reference: chr 7
allele count: 1
allele frequency: 8.853474988933156e-6
allele num: 112950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+30C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+30C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+30C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+30C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+30C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+30C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+30C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+30C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+30C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/7-48147138-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147138
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147138
    reference: chr 7
allele count: 1
allele frequency: 8.880679194344783e-6
allele num: 112604
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+34C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+34C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+34C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+34C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+34C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+34C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+34C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+34C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+34C>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

7-48147140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147140
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147140
    reference: chr 7
allele count: 1
allele frequency: 8.907733694393473e-6
allele num: 112262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+36T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+36T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+36T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+36T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+36T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+36T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+36T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+36T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+36T>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

7-48147141-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147141
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147141
    reference: chr 7
allele count: 1
allele frequency: 8.904085194287139e-6
allele num: 112308
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+37C>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+37C>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+37C>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+37C>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+37C>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+37C>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+37C>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+37C>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+37C>G
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-48147142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147142
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147142
    reference: chr 7
allele count: 1
allele frequency: 8.904719501335708e-6
allele num: 112300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+38C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+38C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+38C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+38C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+38C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+38C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+38C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+38C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+38C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10034
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

7-48147150-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147150
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147150
    reference: chr 7
allele count: 40
allele frequency: 3.589311031747456e-4
allele num: 111442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2584+46T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.659+46T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*290+46T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.793+46T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*290+46T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.793+46T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.382+46T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.793+46T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*290+46T>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11044
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
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: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-48147773-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147773
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147772
    reference: chr 7
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-37delC
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-37delC
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-37delC
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-37delC
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-37delC
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-37delC
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-37delC
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-37delC
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-37delC
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4708
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: AC
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

7-48147778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147778
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147778
    reference: chr 7
allele count: 16
allele frequency: 1.335358627251331e-4
allele num: 119818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-37C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-37C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-37C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-37C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-37C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-37C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-37C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-37C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-37C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24076
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15348
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

7-48147779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147779
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147779
    reference: chr 7
allele count: 13
allele frequency: 1.083658430862592e-4
allele num: 119964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-36G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-36G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-36G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-36G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-36G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-36G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-36G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-36G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-36G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15369
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7534
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24173
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

7-48147781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147781
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147781
    reference: chr 7
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-34C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-34C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-34C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-34C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-34C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-34C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-34C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-34C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-34C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-48147786-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147786
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147786
    reference: chr 7
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-29T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-29T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-29T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-29T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-29T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-29T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-29T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-29T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-29T>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9843
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-48147787-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147787
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147787
    reference: chr 7
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-28G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-28G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-28G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-28G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-28G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-28G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-28G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-28G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-28G>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-48147790-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147790
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147790
    reference: chr 7
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-25T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-25T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-25T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-25T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-25T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-25T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-25T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-25T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-25T>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

7-48147793-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147793
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147793
    reference: chr 7
allele count: 2
allele frequency: 1.661405549094534e-5
allele num: 120380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-22A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-22A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-22A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-22A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-22A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-22A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-22A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-22A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-22A>G
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33721
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-48147795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147795
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147795
    reference: chr 7
allele count: 1
allele frequency: 8.305233958440609e-6
allele num: 120406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-20G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-20G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-20G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-20G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-20G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-20G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-20G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-20G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-20G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

7-48147797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147797
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147797
    reference: chr 7
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-18G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-18G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-18G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-18G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-18G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-18G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-18G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-18G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-18G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

7-48147799-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147799
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147799
    reference: chr 7
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-16T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-16T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-16T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-16T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-16T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-16T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-16T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-16T>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-16T>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

7-48147800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147800
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147800
    reference: chr 7
allele count: 2
allele frequency: 1.659172736473594e-5
allele num: 120542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-15C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-15C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-15C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-15C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-15C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-15C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-15C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-15C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-15C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33938
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

7-48147803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147803
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147803
    reference: chr 7
allele count: 3
allele frequency: 2.48714972641353e-5
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-12T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-12T>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/7-48147806-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147806
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147806
    reference: chr 7
allele count: 48
allele frequency: 3.978120338140229e-4
allele num: 120660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-9C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-9C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-9C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-9C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-9C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-9C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-9C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-9C>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-9C>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24818
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

7-48147807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147807
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147807
    reference: chr 7
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-8C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-8C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-8C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-8C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-8C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-8C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-8C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-8C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-8C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: c.794-8C>T
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-48147813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147813
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147813
    reference: chr 7
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291-2A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794-2A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585-2A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794-2A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660-2A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291-2A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794-2A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383-2A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291-2A>G
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
hgvs: c.794-2A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-48147815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147815
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147815
    reference: chr 7
allele count: 4
allele frequency: 3.309943068979214e-5
allele num: 120848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*291C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.794C>T
  hgvsp: ENSP00000330032.4:p.Ala265Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.660C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.383C>T
  hgvsp: ENSP00000406224.2:p.Ala128Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2585C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*291C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.794C>T
  hgvsp: ENSP00000342878.4:p.Ala265Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.794C>T
  hgvsp: ENSP00000378931.4:p.Ala265Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*291C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala265Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

7-48147816-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147816
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147816
    reference: chr 7
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.661G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.384G>C
  hgvsp: ENST00000429491.2:c.384G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*292G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.795G>C
  hgvsp: ENST00000331803.4:c.795G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.795G>C
  hgvsp: ENST00000395564.4:c.795G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.795G>C
  hgvsp: ENST00000341253.4:c.795G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*292G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*292G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2586G>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.75e1
  variant carriers: 0
hgvs: c.795G>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

7-48147816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147816
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147816
    reference: chr 7
allele count: 3
allele frequency: 2.481348530214554e-5
allele num: 120902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*292G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.795G>A
  hgvsp: ENST00000331803.4:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*292G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.661G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.795G>A
  hgvsp: ENST00000395564.4:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*292G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2586G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.795G>A
  hgvsp: ENST00000341253.4:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.384G>A
  hgvsp: ENST00000429491.2:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
hgvs: c.795G>A
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: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

7-48147825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147825
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147825
    reference: chr 7
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.393G>A
  hgvsp: ENST00000429491.2:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.804G>A
  hgvsp: ENST00000395564.4:c.804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*301G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.804G>A
  hgvsp: ENST00000331803.4:c.804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.804G>A
  hgvsp: ENST00000341253.4:c.804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.670G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*301G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*301G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2595G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val268Val
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

7-48147827-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147827
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147827
    reference: chr 7
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.395G>C
  hgvsp: ENSP00000406224.2:p.Cys132Ser
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*303G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.806G>C
  hgvsp: ENSP00000330032.4:p.Cys269Ser
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2597G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.806G>C
  hgvsp: ENSP00000378931.4:p.Cys269Ser
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.672G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*303G>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.806G>C
  hgvsp: ENSP00000342878.4:p.Cys269Ser
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*303G>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys269Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-48147840-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147840
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147841
    reference: chr 7
allele count: 2
allele frequency: 1.650137786505173e-5
allele num: 121202
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*318dupA
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*318dupA
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.687dupA
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2612dupA
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.821dupA
  hgvsp: ENSP00000330032.4:p.Asn274LysfsTer54
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.410dupA
  hgvsp: ENSP00000406224.2:p.Asn137LysfsTer54
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.821dupA
  hgvsp: ENSP00000378931.4:p.Asn274LysfsTer54
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.821dupA
  hgvsp: ENSP00000342878.4:p.Asn274LysfsTer54
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*318dupA
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn274LysfsTer54
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-48147844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147844
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147844
    reference: chr 7
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*320C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.412C>T
  hgvsp: ENSP00000406224.2:p.Arg138Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.823C>T
  hgvsp: ENSP00000330032.4:p.Arg275Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.823C>T
  hgvsp: ENSP00000342878.4:p.Arg275Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.823C>T
  hgvsp: ENSP00000378931.4:p.Arg275Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*320C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2614C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*320C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.689C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg275Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

7-48147845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147845
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147845
    reference: chr 7
allele count: 2
allele frequency: 1.649892756970797e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.824G>A
  hgvsp: ENSP00000342878.4:p.Arg275His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*321G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2615G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*321G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*321G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.824G>A
  hgvsp: ENSP00000330032.4:p.Arg275His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.690G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.413G>A
  hgvsp: ENSP00000406224.2:p.Arg138His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.824G>A
  hgvsp: ENSP00000378931.4:p.Arg275His
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg275His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

7-48147849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147849
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147849
    reference: chr 7
allele count: 5
allele frequency: 4.124323610927808e-5
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.417G>A
  hgvsp: ENST00000429491.2:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*325G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2619G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.828G>A
  hgvsp: ENST00000331803.4:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.828G>A
  hgvsp: ENST00000395564.4:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*325G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.828G>A
  hgvsp: ENST00000341253.4:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*325G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.694G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu276Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

7-48147851-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147851
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147851
    reference: chr 7
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*327A>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*327A>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2621A>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.419A>T
  hgvsp: ENSP00000406224.2:p.Glu140Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.830A>T
  hgvsp: ENSP00000378931.4:p.Glu277Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*327A>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.830A>T
  hgvsp: ENSP00000330032.4:p.Glu277Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.830A>T
  hgvsp: ENSP00000342878.4:p.Glu277Val
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.696A>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu277Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

7-48147852-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147852
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147852
    reference: chr 7
allele count: 4
allele frequency: 3.299132328197684e-5
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*328A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*328A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.420A>G
  hgvsp: ENST00000429491.2:c.420A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.831A>G
  hgvsp: ENST00000331803.4:c.831A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.831A>G
  hgvsp: ENST00000341253.4:c.831A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.831A>G
  hgvsp: ENST00000395564.4:c.831A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*328A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.697A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2622A>G
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu277Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

7-48147854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147854
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147854
    reference: chr 7
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*330G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.422G>A
  hgvsp: ENSP00000406224.2:p.Gly141Glu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.833G>A
  hgvsp: ENSP00000342878.4:p.Gly278Glu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*330G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.833G>A
  hgvsp: ENSP00000378931.4:p.Gly278Glu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2624G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.833G>A
  hgvsp: ENSP00000330032.4:p.Gly278Glu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*330G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.699G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly278Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

7-48147865-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147865
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147865
    reference: chr 7
allele count: 5
allele frequency: 4.124187535055594e-5
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.710A>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.844A>T
  hgvsp: ENSP00000378931.4:p.Ser282Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2635A>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.844A>T
  hgvsp: ENSP00000342878.4:p.Ser282Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.844A>T
  hgvsp: ENSP00000330032.4:p.Ser282Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*341A>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*341A>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.433A>T
  hgvsp: ENSP00000406224.2:p.Ser145Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*341A>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser282Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

7-48147868-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147868
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147868
    reference: chr 7
allele count: 15
allele frequency: 1.237256260516678e-4
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.847A>G
  hgvsp: ENSP00000330032.4:p.Ser283Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*344A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*344A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.436A>G
  hgvsp: ENSP00000406224.2:p.Ser146Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.713A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*344A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.847A>G
  hgvsp: ENSP00000378931.4:p.Ser283Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2638A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.847A>G
  hgvsp: ENSP00000342878.4:p.Ser283Gly
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser283Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-48147873-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147873
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147873
    reference: chr 7
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*349T>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.441T>G
  hgvsp: ENST00000429491.2:c.441T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.852T>G
  hgvsp: ENST00000331803.4:c.852T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*349T>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.852T>G
  hgvsp: ENST00000341253.4:c.852T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*349T>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.718T>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.852T>G
  hgvsp: ENST00000395564.4:c.852T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2643T>G
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro284Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

7-48147874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147874
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147874
    reference: chr 7
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.853C>T
  hgvsp: ENSP00000342878.4:p.Arg285Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*350C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*350C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.719C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.442C>T
  hgvsp: ENSP00000406224.2:p.Arg148Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*350C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2644C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.853C>T
  hgvsp: ENSP00000330032.4:p.Arg285Cys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.853C>T
  hgvsp: ENSP00000378931.4:p.Arg285Cys
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg285Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

7-48147875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147875
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147875
    reference: chr 7
allele count: 2
allele frequency: 1.649783878311941e-5
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*351G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*351G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2645G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.443G>A
  hgvsp: ENSP00000406224.2:p.Arg148His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.720G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*351G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.854G>A
  hgvsp: ENSP00000330032.4:p.Arg285His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.854G>A
  hgvsp: ENSP00000378931.4:p.Arg285His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.854G>A
  hgvsp: ENSP00000342878.4:p.Arg285His
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg285His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

7-48147875-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147875
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147875
    reference: chr 7
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.854G>T
  hgvsp: ENSP00000330032.4:p.Arg285Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.854G>T
  hgvsp: ENSP00000378931.4:p.Arg285Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2645G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.720G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*351G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*351G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.854G>T
  hgvsp: ENSP00000342878.4:p.Arg285Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.443G>T
  hgvsp: ENSP00000406224.2:p.Arg148Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*351G>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg285Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-48147878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147878
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147878
    reference: chr 7
allele count: 3
allele frequency: 2.474757473767571e-5
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*354A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.857A>G
  hgvsp: ENSP00000378931.4:p.Asn286Ser
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.446A>G
  hgvsp: ENSP00000406224.2:p.Asn149Ser
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.857A>G
  hgvsp: ENSP00000342878.4:p.Asn286Ser
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.723A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*354A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*354A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2648A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.857A>G
  hgvsp: ENSP00000330032.4:p.Asn286Ser
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn286Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-48147879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147879
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147879
    reference: chr 7
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2649T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.858T>C
  hgvsp: ENST00000341253.4:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.858T>C
  hgvsp: ENST00000331803.4:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.858T>C
  hgvsp: ENST00000395564.4:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.724T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*355T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*355T>C
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.447T>C
  hgvsp: ENST00000429491.2:c.447T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*355T>C
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn286Asn
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

7-48147888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147888
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147888
    reference: chr 7
allele count: 38
allele frequency: 3.136038028587463e-4
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*364C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.867C>T
  hgvsp: ENST00000331803.4:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.867C>T
  hgvsp: ENST00000341253.4:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*364C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.456C>T
  hgvsp: ENST00000429491.2:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.867C>T
  hgvsp: ENST00000395564.4:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*364C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.733C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2658C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser289Ser
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: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

7-48147889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147889
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147889
    reference: chr 7
allele count: 5
allele frequency: 4.12609341475491e-5
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.734G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.868G>A
  hgvsp: ENSP00000378931.4:p.Glu290Lys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.457G>A
  hgvsp: ENSP00000406224.2:p.Glu153Lys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.868G>A
  hgvsp: ENSP00000330032.4:p.Glu290Lys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*365G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*365G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000408899
  ensembl transcript: ENST00000457596
  gene symbol: UPP1
  hgvsc: ENST00000457596.1:c.*365G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.868G>A
  hgvsp: ENSP00000342878.4:p.Glu290Lys
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2659G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15587
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu290Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

7-48147900-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147900
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147900
    reference: chr 7
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*376G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.745G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.879G>T
  hgvsp: ENSP00000342878.4:p.Gln293His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.879G>T
  hgvsp: ENSP00000378931.4:p.Gln293His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2670G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.879G>T
  hgvsp: ENSP00000330032.4:p.Gln293His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.468G>T
  hgvsp: ENSP00000406224.2:p.Gln156His
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*376G>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln293His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-48147905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147905
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147905
    reference: chr 7
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2675C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.750C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.884C>T
  hgvsp: ENSP00000342878.4:p.Pro295Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.473C>T
  hgvsp: ENSP00000406224.2:p.Pro158Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*381C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.884C>T
  hgvsp: ENSP00000378931.4:p.Pro295Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.884C>T
  hgvsp: ENSP00000330032.4:p.Pro295Leu
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*381C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro295Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

7-48147906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147906
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147906
    reference: chr 7
allele count: 2
allele frequency: 1.651991475723985e-5
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.751G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*382G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2676G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.885G>A
  hgvsp: ENST00000395564.4:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.885G>A
  hgvsp: ENST00000331803.4:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.474G>A
  hgvsp: ENST00000429491.2:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.885G>A
  hgvsp: ENST00000341253.4:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*382G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4553
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro295Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

7-48147907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147907
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147907
    reference: chr 7
allele count: 5
allele frequency: 4.129296533042631e-5
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.752C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.886C>T
  hgvsp: ENSP00000342878.4:p.Gln296Ter
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.886C>T
  hgvsp: ENSP00000378931.4:p.Gln296Ter
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2677C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*383C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.475C>T
  hgvsp: ENSP00000406224.2:p.Gln159Ter
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*383C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.886C>T
  hgvsp: ENSP00000330032.4:p.Gln296Ter
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25099
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln296Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

7-48147910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147910
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147910
    reference: chr 7
allele count: 4
allele frequency: 3.303873792021145e-5
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.889C>T
  hgvsp: ENSP00000342878.4:p.Arg297Trp
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.889C>T
  hgvsp: ENSP00000330032.4:p.Arg297Trp
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.478C>T
  hgvsp: ENSP00000406224.2:p.Arg160Trp
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*386C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.755C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.889C>T
  hgvsp: ENSP00000378931.4:p.Arg297Trp
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*386C>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2680C>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg297Trp
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

7-48147917-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147917
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147917
    reference: chr 7
allele count: 185
allele frequency: 1.588419136586874e-3
allele num: 116468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*393T>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.762T>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.896T>G
  hgvsp: ENSP00000342878.4:p.Val299Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.896T>G
  hgvsp: ENSP00000330032.4:p.Val299Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2687T>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.485T>G
  hgvsp: ENSP00000406224.2:p.Val162Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*393T>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.896T>G
  hgvsp: ENSP00000378931.4:p.Val299Gly
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 24971
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 15626
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 33752
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 8
hgvs: p.Val299Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

7-48147919-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147919
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147919
    reference: chr 7
allele count: 117
allele frequency: 9.681903942272682e-4
allele num: 120844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.898A>G
  hgvsp: ENSP00000342878.4:p.Ser300Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.487A>G
  hgvsp: ENSP00000406224.2:p.Ser163Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.898A>G
  hgvsp: ENSP00000378931.4:p.Ser300Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*395A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*395A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.764A>G
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.898A>G
  hgvsp: ENSP00000330032.4:p.Ser300Gly
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2689A>G
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8881
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16002
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 25817
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 9.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Ser300Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-48147920-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147920
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147920
    reference: chr 7
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.899G>T
  hgvsp: ENSP00000342878.4:p.Ser300Ile
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.899G>T
  hgvsp: ENSP00000378931.4:p.Ser300Ile
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*396G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.899G>T
  hgvsp: ENSP00000330032.4:p.Ser300Ile
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*396G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.765G>T
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.488G>T
  hgvsp: ENSP00000406224.2:p.Ser163Ile
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2690G>T
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser300Ile
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

7-48147942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48147942
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 48147942
    reference: chr 7
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000330032
  ensembl transcript: ENST00000331803
  gene symbol: UPP1
  hgvsc: ENST00000331803.4:c.921G>A
  hgvsp: ENST00000331803.4:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000406224
  ensembl transcript: ENST00000429491
  gene symbol: UPP1
  hgvsc: ENST00000429491.2:c.510G>A
  hgvsp: ENST00000429491.2:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378927
  ensembl transcript: ENST00000395560
  gene symbol: UPP1
  hgvsc: ENST00000395560.3:c.*418G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000495446
  gene symbol: UPP1
  hgvsc: ENST00000495446.1:n.2712G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000342878
  ensembl transcript: ENST00000341253
  gene symbol: UPP1
  hgvsc: ENST00000341253.4:c.921G>A
  hgvsp: ENST00000341253.4:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000378931
  ensembl transcript: ENST00000395564
  gene symbol: UPP1
  hgvsc: ENST00000395564.4:c.921G>A
  hgvsp: ENST00000395564.4:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183696
  ensembl protein: ENSP00000413611
  ensembl transcript: ENST00000417464
  gene symbol: UPP1
  hgvsc: ENST00000417464.2:c.*418G>A
  variant of: http://identifiers.org/hgnc/12576
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183696
  ensembl transcript: ENST00000482015
  gene symbol: UPP1
  hgvsc: ENST00000482015.1:n.787G>A
  variant of: http://identifiers.org/hgnc/12576
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu307Leu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16656
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6223
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3930
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17237
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
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: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.241418050181001e-5
allele num: 16022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.51997830410414e-5
allele num: 66372
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

FS
type: SiteQuality
SIO_000300: 2.437e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

DP
type: SiteQuality
SIO_000300: 2.007448e6

QD
type: SiteQuality
SIO_000300: 1.147e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 17301
bin: 9.75e1
variant carriers: 92

GenotypeQuality
all individuals: 16053
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 23
allele frequency: 3.485904819642316e-3
allele num: 6598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.026911111782295e-3
allele num: 66218
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.003178e6

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.232e0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17289
bin: 9.75e1
variant carriers: 80

GenotypeQuality
all individuals: 3922
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4884
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 78
allele frequency: 7.530411276308167e-3
allele num: 10358
num of homozygotes: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.358087487283825e-5
allele num: 15728
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510163399679845e-5
allele num: 66218
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 1.755e0

QD
type: SiteQuality
SIO_000300: 1.305e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

DP
type: SiteQuality
SIO_000300: 2.002379e6

GenotypeQuality
all individuals: 244
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6041
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3926
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
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: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513042425709617e-5
allele num: 66092
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 6.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

DP
type: SiteQuality
SIO_000300: 1.993439e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029017992366875e-5
allele num: 66028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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: 890
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -5.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.455e0

VQSLOD
type: SiteQuality
SIO_000300: -8.561e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 7.08e0

DP
type: SiteQuality
SIO_000300: 1.989581e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
SIO_000300: 3.62e0

GenotypeQuality
all individuals: 5910
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3926
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519849230956289e-5
allele num: 65796
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14912
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

QD
type: SiteQuality
SIO_000300: 1.046e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

DP
type: SiteQuality
SIO_000300: 1.974989e6

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

GenotypeQuality
all individuals: 4552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3139
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3926
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
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: 1.520635017183176e-5
allele num: 65762
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 1.2758e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.973786e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.281e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65740
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14766
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.468e0

QD
type: SiteQuality
SIO_000300: 1.183e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.081e0

DP
type: SiteQuality
SIO_000300: 1.971802e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.127e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
allele frequency: 2.913752913752914e-4
allele num: 10296
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65582
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.380452788514633e-4
allele num: 14488
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

FS
type: SiteQuality
SIO_000300: 2.638e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

DP
type: SiteQuality
SIO_000300: 1.966292e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.658746797111577e-4
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536995481233285e-5
allele num: 65062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 1.939276e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13220
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541402059313151e-5
allele num: 64876
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
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MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.769e0

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.646e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.930767e6

FS
type: SiteQuality
SIO_000300: 1.1681e1

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.648424184201555e-5
allele num: 64538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12486
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MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.919144e6

FS
type: SiteQuality
SIO_000300: 3.448e0

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 1.334e1

BaseQRankSum
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SIO_000300: -3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.297378028542981e-5
allele num: 12052
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Other
type: Population
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allele frequency: 1.204819277108434e-3
allele num: 830
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64270
num of homozygotes: 0

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

African
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QD
type: SiteQuality
SIO_000300: 1.066e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

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

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: 5.659999999999999e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.557098813490704e-5
allele num: 64222
num of homozygotes: 0

East Asian
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allele num: 8558
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
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FS
type: SiteQuality
SIO_000300: 3.049e0

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

MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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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African
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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

South Asian
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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
allele num: 8562
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559429872438636e-5
allele num: 64126
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.182e1

BaseQRankSum
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SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.904164e6

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 3.273e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64126
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.16795141322121e-3
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11762
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.210653753026634e-3
allele num: 826
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.182e1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.904164e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

FS
type: SiteQuality
SIO_000300: 3.273e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64092
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.528057308545113e-5
allele num: 11726
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.975009916699722e-4
allele num: 10084
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.715356458079135e-5
allele num: 11474
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

FS
type: SiteQuality
SIO_000300: 2.234e0

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

DP
type: SiteQuality
SIO_000300: 1.902231e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.895492e6

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.214e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566121656330264e-5
allele num: 63852
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

DP
type: SiteQuality
SIO_000300: 1.88992e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.1e0

FS
type: SiteQuality
SIO_000300: 1.974e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.472e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-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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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568824323052305e-5
allele num: 63742
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

DP
type: SiteQuality
SIO_000300: 1.885732e6

VQSLOD
type: SiteQuality
SIO_000300: -2.155e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.824e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.16e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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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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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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63752
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.960573476702509e-5
allele num: 11160
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.885533e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568725880839582e-5
allele num: 63746
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.318e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 40

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63424
num of homozygotes: 0

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

African
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allele count: 39
allele frequency: 3.953771289537713e-3
allele num: 9864
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.9e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

InbreedingCoeff
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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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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
all individuals: 480
bin: 2.75e1
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GenotypeQuality
all individuals: 304
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5148760831364e-5
allele num: 66012
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.758e-1

DP
type: SiteQuality
SIO_000300: 1.883282e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 1.5979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.155e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.178e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 827
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
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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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.933114247052001e-4
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.270648030495553e-4
allele num: 15740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.089531889107711e-5
allele num: 66010
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.891769e6

QD
type: SiteQuality
SIO_000300: 1.39e1

FS
type: SiteQuality
SIO_000300: 1.909e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 789
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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
all individuals: 3612
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027825718351652e-5
allele num: 66054
num of homozygotes: 0

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

South Asian
type: Population
allele count: 11
allele frequency: 6.94532137896199e-4
allele num: 15838
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

DP
type: SiteQuality
SIO_000300: 1.892796e6

FS
type: SiteQuality
SIO_000300: 1.259e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.44e1

GenotypeQuality
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bin: 3.75e1
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
all individuals: 829
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51372952680815e-5
allele num: 66062
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

FS
type: SiteQuality
SIO_000300: 1.0686e1

MQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.895261e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 3
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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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GenotypeQuality
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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: 2276
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GenotypeQuality
all individuals: 1233
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511852926947267e-5
allele num: 66144
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.900666e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 2.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeQuality
all individuals: 677
bin: 2.25e1
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
all individuals: 86
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
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: 66148
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.243e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.383e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

FS
type: SiteQuality
SIO_000300: 5.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.901907e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.239081607187422e-5
allele num: 16028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
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: 898
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

QD
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 2.281e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

Other
type: Population
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66220
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.908201e6

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 2920
bin: 7.25e1
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GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 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: 66228
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
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Other
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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 count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

InbreedingCoeff
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.41e-1

MQRankSum
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SIO_000300: -1.041e0

QD
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SIO_000300: 1.17e1

ReadPosRankSum
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SIO_000300: -7.98e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: -6.687e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
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 frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50934283213089e-5
allele num: 66254
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.910545e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.95e1

BaseQRankSum
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SIO_000300: -3.811e0

VQSLOD
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SIO_000300: 1.51e0

ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508887346470713e-5
allele num: 66274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.362e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 5.703e0

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.911588e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

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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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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017592564651921e-5
allele num: 66278
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.16e1

MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

FS
type: SiteQuality
SIO_000300: 5.938e0

MQ
type: SiteQuality
SIO_000300: 5.853e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

VQSLOD
type: SiteQuality
SIO_000300: -2.476e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

DP
type: SiteQuality
SIO_000300: 1.912198e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016318281905107e-5
allele num: 66306
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.91349e6

FS
type: SiteQuality
SIO_000300: 1.771e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

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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variant carriers: 0

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

South Asian
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Other
type: Population
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allele num: 902
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
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 count: 43
allele frequency: 6.483519797352311e-4
allele num: 66322
num of homozygotes: 0

East Asian
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MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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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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Other
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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South Asian
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

South Asian
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Latino
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African
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European (Non-Finnish)
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Other
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East Asian
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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FS
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MQ
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DP
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ReadPosRankSum
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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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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Other
type: Population
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African
type: Population
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allele frequency: 9.646922631680494e-5
allele num: 10366
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East Asian
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European (Non-Finnish)
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allele frequency: 4.519161243673174e-5
allele num: 66384
num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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African
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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MQRankSum
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MQ
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FS
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QD
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InbreedingCoeff
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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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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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DP
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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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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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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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Latino
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South Asian
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East Asian
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African
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Other
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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MQ
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QD
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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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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Latino
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European (Finnish)
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East Asian
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African
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Other
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European (Non-Finnish)
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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QD
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FS
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InbreedingCoeff
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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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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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African
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ClippingRankSum
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VQSLOD
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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Other
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South Asian
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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VQSLOD
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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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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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South Asian
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InbreedingCoeff
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MQRankSum
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FS
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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SIO_000300: 1.920828e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.996e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

VQSLOD
type: SiteQuality
SIO_000300: -1.541e0

ReadPosRankSum
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SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.011e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

FS
type: SiteQuality
SIO_000300: 1.1331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.920307e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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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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: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.625346901017577e-4
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66608
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: 10388
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.88e0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 1.920374e6

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.209e-1

MQ
type: SiteQuality
SIO_000300: 5.344e1

QD
type: SiteQuality
SIO_000300: 1.578e1

FS
type: SiteQuality
SIO_000300: 4.123e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.920008e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.78168362627197e-4
allele num: 8648
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 3.448e0

DP
type: SiteQuality
SIO_000300: 1.919431e6

QD
type: SiteQuality
SIO_000300: 1.22e1

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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GenotypeQuality
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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: 15

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.501456412720339e-4
allele num: 66602
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
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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South 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
allele num: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

Other
type: Population
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -7.18e-1

MQ
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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variant carriers: 0

Other
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num of homozygotes: 0

European (Non-Finnish)
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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: 1.817961459217065e-4
allele num: 16502
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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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 frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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DP
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.978e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

Other
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South Asian
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allele num: 16504
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African
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European (Finnish)
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allele frequency: 0.0e0
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QD
type: SiteQuality
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.91768e6

MQRankSum
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SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 5.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
all individuals: 10043
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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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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504639778972342e-5
allele num: 66598
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.947e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.29e1

BaseQRankSum
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SIO_000300: 4.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.917266e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.916838e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.186e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.092e0

FS
type: SiteQuality
SIO_000300: 1.8797e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 38

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 21
allele frequency: 2.025462962962963e-3
allele num: 10368
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.029568589432865e-4
allele num: 16504
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.511116452349477e-5
allele num: 66568
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.184929139301763e-4
allele num: 11572
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.916104e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 3.363e0

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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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004356316659156e-5
allele num: 66570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.446e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.427e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

DP
type: SiteQuality
SIO_000300: 1.913555e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.911999e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.337e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.213e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.19e1

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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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: -1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

FS
type: SiteQuality
SIO_000300: 1.0712e1

QD
type: SiteQuality
SIO_000300: 2.16e1

DP
type: SiteQuality
SIO_000300: 1.911462e6

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 1.611e0

DP
type: SiteQuality
SIO_000300: 1.910993e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.164e0

QD
type: SiteQuality
SIO_000300: 1.169e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 2267
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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
all individuals: 65
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 144
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GenotypeQuality
all individuals: 4552
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GenotypeQuality
all individuals: 34290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.51698839376992e-5
allele num: 66516
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e0

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

DP
type: SiteQuality
SIO_000300: 1.911119e6

MQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

FS
type: SiteQuality
SIO_000300: 3.538e0

QD
type: SiteQuality
SIO_000300: 1.119e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4547
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9917
bin: 6.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510735550610453e-5
allele num: 66508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.844e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.911316e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1089
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2848
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3461
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9735
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 237
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 9.75e1
variant carriers: 114

GenotypeQuality
all individuals: 762
bin: 8.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 113
allele frequency: 1.774608957849111e-3
allele num: 63676
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 3.887371296490859e-3
allele num: 9518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.357678229039568e-4
allele num: 11474
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.341372044017794e-4
allele num: 8542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 27
allele frequency: 4.521098459477562e-3
allele num: 5972
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.21021e2

DP
type: SiteQuality
SIO_000300: 1.893821e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.926e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.324e0

VQSLOD
type: SiteQuality
SIO_000300: -4.789e2

QD
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 1202
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10229
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 35069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 2.130956993413406e-3
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 68
allele frequency: 1.024281496656022e-3
allele num: 66388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 22
allele frequency: 3.349573690621194e-3
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.804504e6

MQ
type: SiteQuality
SIO_000300: 5.88e1

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.899e0

QD
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.161e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.357e0

FS
type: SiteQuality
SIO_000300: 1.54715e2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
all individuals: 35314
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3035
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10299
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.244e0

VQSLOD
type: SiteQuality
SIO_000300: -7.371e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 1.798312e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

QD
type: SiteQuality
SIO_000300: 1.279e1