19-55559782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55559782
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 55559782
    reference: chr 19
allele count: 3
allele frequency: 2.485665992774998e-5
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000291892
  ensembl transcript: ENST00000291892
  gene symbol: RDH13
  hgvsc: ENST00000291892.6:c.573G>A
  hgvsp: ENST00000291892.6:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000467208
  ensembl transcript: ENST00000587721
  gene symbol: RDH13
  hgvsc: ENST00000587721.1:c.*346G>A
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267149
  ensembl transcript: ENST00000585492
  gene symbol: CTC-550B14.6
  hgvsc: ENST00000585492.1:n.409G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000465538
  ensembl transcript: ENST00000592573
  gene symbol: RDH13
  hgvsc: ENST00000592573.1:c.573G>A
  hgvsp: ENST00000592573.1:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000379547
  ensembl transcript: ENST00000396247
  gene symbol: RDH13
  hgvsc: ENST00000396247.3:c.360G>A
  hgvsp: ENST00000396247.3:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000391121
  ensembl transcript: ENST00000415061
  gene symbol: RDH13
  hgvsc: ENST00000415061.3:c.573G>A
  hgvsp: ENST00000415061.3:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19978
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160439
  ensembl protein: ENSP00000468422
  ensembl transcript: ENST00000591960
  gene symbol: RDH13
  hgvsc: ENST00000591960.1:c.*91-6410G>A
  variant of: http://identifiers.org/hgnc/19978
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr191Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

19-30496391-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496391
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496392
    reference: chr 19
allele count: 2
allele frequency: 1.943219136822059e-5
allele num: 102922
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*398+33dupA
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.231+33dupA
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.405+33dupA
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.391+33dupA
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.231+33dupA
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*292+33dupA
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.459+33dupA
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.354+33dupA
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.339+33dupA
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

19-30496399-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496399
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496399
    reference: chr 19
allele count: 4
allele frequency: 4.055232263427888e-5
allele num: 98638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.391+40A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.405+40A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*292+40A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.354+40A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.231+40A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.231+40A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*398+40A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.459+40A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.339+40A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14056
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

19-30496404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496404
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496404
    reference: chr 19
allele count: 11
allele frequency: 1.134909826255623e-4
allele num: 96924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.231+45C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.231+45C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*398+45C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.391+45C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*292+45C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.405+45C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.459+45C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.339+45C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.354+45C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15756
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13934
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-30496405-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496405
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496405
    reference: chr 19
allele count: 1
allele frequency: 1.023499549660198e-5
allele num: 97704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.405+46A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.231+46A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*292+46A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.339+46A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.354+46A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*398+46A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.391+46A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.459+46A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.231+46A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13831
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3859
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 9.75e1
  variant carriers: 1
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: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

19-30496410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496410
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496410
    reference: chr 19
allele count: 1
allele frequency: 1.034575513666742e-5
allele num: 96658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.231+51A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.405+51A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.459+51A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.391+51A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*398+51A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.231+51A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.339+51A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*292+51A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.354+51A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-30496515-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496515
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496515
    reference: chr 19
allele count: 2
allele frequency: 1.667806334328458e-5
allele num: 119918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.406-43A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.355-43A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.340-43A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.392-43A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.232-43A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.232-43A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*399-43A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*293-43A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.460-43A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12251
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

19-30496533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496533
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496533
    reference: chr 19
allele count: 4
allele frequency: 3.325905477766322e-5
allele num: 120268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.232-25C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.460-25C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.355-25C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.340-25C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*399-25C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.406-25C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.232-25C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.392-25C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*293-25C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

19-30496534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496534
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496534
    reference: chr 19
allele count: 4
allele frequency: 3.324412825584681e-5
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.460-24G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*293-24G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.232-24G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.355-24G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.406-24G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*399-24G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.232-24G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.392-24G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.340-24G>A
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

19-30496535-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496535
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496536
    reference: chr 19
allele count: 99
allele frequency: 9.056810904766261e-4
allele num: 109310
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*399-14dupT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.460-14dupT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.355-14dupT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.232-14dupT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.406-14dupT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.340-14dupT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.392-14dupT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*293-14dupT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.232-14dupT
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 2.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10477
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 4.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 2.5e0
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 1.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 1.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 9420
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 2.25e1
  variant carriers: 19
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

19-30496535-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496535
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496534
    reference: chr 19
allele count: 251
allele frequency: 2.296221754642759e-3
allele num: 109310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.340-14delT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*399-14delT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*293-14delT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.460-14delT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.406-14delT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.355-14delT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.232-14delT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.232-14delT
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.392-14delT
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10477
  bin: 3.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 3.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 9.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9420
  bin: 9.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.5e0
  variant carriers: 48
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: CT
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-30496535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496535
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496535
    reference: chr 19
allele count: 1
allele frequency: 9.148293843198244e-6
allele num: 109310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*293-23C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.232-23C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.232-23C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.460-23C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.340-23C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.392-23C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*399-23C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.355-23C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.406-23C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9420
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

19-30496544-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496544
    reference: chr 19
allele count: 4
allele frequency: 3.314605810503986e-5
allele num: 120678
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.460-14T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.340-14T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.406-14T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.232-14T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.232-14T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*293-14T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.355-14T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*399-14T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.392-14T>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-30496548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496548
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496548
    reference: chr 19
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.340-10T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.355-10T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.460-10T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*293-10T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.406-10T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.392-10T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*399-10T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.232-10T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.232-10T>C
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

19-30496554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496554
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496554
    reference: chr 19
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.232-4C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.232-4C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.355-4C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.460-4C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.392-4C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*399-4C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*293-4C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.340-4C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.406-4C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
hgvs: c.460-4C>T
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-30496559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496559
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496559
    reference: chr 19
allele count: 10
allele frequency: 8.272119647938587e-5
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*400C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.356C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.233C>T
  hgvsp: ENSP00000376097.1:p.Ala78Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.341C>T
  hgvsp: ENSP00000312530.6:p.Ala114Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.407C>T
  hgvsp: ENSP00000353817.4:p.Ala136Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.461C>T
  hgvsp: ENSP00000442436.2:p.Ala154Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*294C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.233C>T
  hgvsp: ENSP00000461895.1:p.Ala78Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.393C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala154Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

19-30496563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496563
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496563
    reference: chr 19
allele count: 2
allele frequency: 1.654287084980728e-5
allele num: 120898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.237A>G
  hgvsp: ENST00000392271.1:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.411A>G
  hgvsp: ENST00000360605.4:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.345A>G
  hgvsp: ENST00000312051.6:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.465A>G
  hgvsp: ENST00000542441.2:c.465A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.237A>G
  hgvsp: ENST00000576442.1:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*298A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*404A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.397A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.360A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala155Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

19-30496563-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496563
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496563
    reference: chr 19
allele count: 1
allele frequency: 8.271435424903638e-6
allele num: 120898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.345A>T
  hgvsp: ENST00000312051.6:c.345A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*404A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.360A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.411A>T
  hgvsp: ENST00000360605.4:c.411A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.237A>T
  hgvsp: ENST00000576442.1:c.237A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.237A>T
  hgvsp: ENST00000392271.1:c.237A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.465A>T
  hgvsp: ENST00000542441.2:c.465A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*298A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.397A>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala155Ala
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: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-30496568-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496568
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496568
    reference: chr 19
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.470A>T
  hgvsp: ENSP00000442436.2:p.Asp157Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*303A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.242A>T
  hgvsp: ENSP00000376097.1:p.Asp81Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.350A>T
  hgvsp: ENSP00000312530.6:p.Asp117Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.365A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*409A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.242A>T
  hgvsp: ENSP00000461895.1:p.Asp81Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.416A>T
  hgvsp: ENSP00000353817.4:p.Asp139Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.402A>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp157Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

19-30496571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496571
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496571
    reference: chr 19
allele count: 6
allele frequency: 4.962697060429108e-5
allele num: 120902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.245T>C
  hgvsp: ENSP00000461895.1:p.Ile82Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*412T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.353T>C
  hgvsp: ENSP00000312530.6:p.Ile118Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.473T>C
  hgvsp: ENSP00000442436.2:p.Ile158Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.419T>C
  hgvsp: ENSP00000353817.4:p.Ile140Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.405T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.245T>C
  hgvsp: ENSP00000376097.1:p.Ile82Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*306T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.368T>C
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9958
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile158Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-30496579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496579
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496579
    reference: chr 19
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.361A>G
  hgvsp: ENSP00000312530.6:p.Ile121Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.427A>G
  hgvsp: ENSP00000353817.4:p.Ile143Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*314A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.253A>G
  hgvsp: ENSP00000376097.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.253A>G
  hgvsp: ENSP00000461895.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.376A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.481A>G
  hgvsp: ENSP00000442436.2:p.Ile161Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.413A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*420A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile161Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-30496583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496583
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496583
    reference: chr 19
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.431G>A
  hgvsp: ENSP00000353817.4:p.Arg144Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.365G>A
  hgvsp: ENSP00000312530.6:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.257G>A
  hgvsp: ENSP00000461895.1:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*318G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*424G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.257G>A
  hgvsp: ENSP00000376097.1:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.380G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.485G>A
  hgvsp: ENSP00000442436.2:p.Arg162Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.417G>A
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg162Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-30496597-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496597
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496597
    reference: chr 19
allele count: 2
allele frequency: 1.653876686954221e-5
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.445T>C
  hgvsp: ENSP00000353817.4:p.Cys149Arg
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.431T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*438T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.499T>C
  hgvsp: ENSP00000442436.2:p.Cys167Arg
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.271T>C
  hgvsp: ENSP00000376097.1:p.Cys91Arg
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.394T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.271T>C
  hgvsp: ENSP00000461895.1:p.Cys91Arg
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.379T>C
  hgvsp: ENSP00000312530.6:p.Cys127Arg
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*332T>C
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys167Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

19-30496605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496605
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496605
    reference: chr 19
allele count: 17
allele frequency: 1.406399947053178e-4
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.507C>T
  hgvsp: ENST00000542441.2:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*340C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.439C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.387C>T
  hgvsp: ENST00000312051.6:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.453C>T
  hgvsp: ENST00000360605.4:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.279C>T
  hgvsp: ENST00000576442.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.279C>T
  hgvsp: ENST00000392271.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*446C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.402C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe169Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-30496606-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496606
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496606
    reference: chr 19
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.454G>C
  hgvsp: ENSP00000353817.4:p.Glu152Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.440G>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.388G>C
  hgvsp: ENSP00000312530.6:p.Glu130Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*447G>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.280G>C
  hgvsp: ENSP00000461895.1:p.Glu94Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*341G>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.508G>C
  hgvsp: ENSP00000442436.2:p.Glu170Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.403G>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.280G>C
  hgvsp: ENSP00000376097.1:p.Glu94Gln
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu170Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

19-30496608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496608
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496608
    reference: chr 19
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.442A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.405A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.510A>G
  hgvsp: ENST00000542441.2:c.510A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*449A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.282A>G
  hgvsp: ENST00000392271.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.282A>G
  hgvsp: ENST00000576442.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.390A>G
  hgvsp: ENST00000312051.6:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.456A>G
  hgvsp: ENST00000360605.4:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*343A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu170Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-30496611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496611
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496611
    reference: chr 19
allele count: 10
allele frequency: 8.274583788435442e-5
allele num: 120852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*346T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.285T>C
  hgvsp: ENST00000576442.1:c.285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.393T>C
  hgvsp: ENST00000312051.6:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.285T>C
  hgvsp: ENST00000392271.1:c.285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.445T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.513T>C
  hgvsp: ENST00000542441.2:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000458533
  ensembl transcript: ENST00000574666
  gene symbol: URI1
  hgvsc: ENST00000574666.1:c.*452T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.408T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.459T>C
  hgvsp: ENST00000360605.4:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe171Phe
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

19-30496614-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496614
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496613
    reference: chr 19
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.463+1delG
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.289+1delG
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.517+1delG
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*350+1delG
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.397+1delG
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.289+1delG
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.412+1delG
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.449+1delG
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9972
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: AG
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-30496623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496623
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496623
    reference: chr 19
allele count: 3
allele frequency: 2.485707183693761e-5
allele num: 120690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*350+8G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.449+8G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.517+8G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.289+8G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.463+8G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.397+8G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.289+8G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.412+8G>A
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9962
  bin: 9.75e1
  variant carriers: 3
hgvs: c.517+8G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

19-30496625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496625
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496625
    reference: chr 19
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.289+10A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.463+10A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.289+10A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.412+10A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.397+10A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.517+10A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.449+10A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*350+10A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

19-30496636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496636
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496636
    reference: chr 19
allele count: 1
allele frequency: 8.299030673217368e-6
allele num: 120496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*350+21A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.412+21A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.289+21A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.397+21A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.449+21A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.463+21A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.289+21A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.517+21A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-30496639-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496639
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496639
    reference: chr 19
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.517+24T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.412+24T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.449+24T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*350+24T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.289+24T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.463+24T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.397+24T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.289+24T>A
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-30496649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496649
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496649
    reference: chr 19
allele count: 97
allele frequency: 8.07862080453069e-4
allele num: 120070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.449+34T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*350+34T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.463+34T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.412+34T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.289+34T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.517+34T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.289+34T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.397+34T>C
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9998
  bin: 9.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

19-30496649-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496649
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496649
    reference: chr 19
allele count: 4
allele frequency: 3.331390022486883e-5
allele num: 120070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*350+34T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.289+34T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.463+34T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.517+34T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.289+34T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.449+34T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.397+34T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.412+34T>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

19-30496652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496652
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496652
    reference: chr 19
allele count: 1
allele frequency: 8.330417687142833e-6
allele num: 120042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.289+37A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.463+37A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*350+37A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.412+37A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.449+37A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.517+37A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.289+37A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.397+37A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

19-30496656-T-TTTGATTTTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496656
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496666
    reference: chr 19
allele count: 1
allele frequency: 8.347245409015026e-6
allele num: 119800
alternate allele: TTTGATTTTTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

19-30496661-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30496661
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30496661
    reference: chr 19
allele count: 1
allele frequency: 8.394754957102802e-6
allele num: 119122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.463+46T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.412+46T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.449+46T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.289+46T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.517+46T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*350+46T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.397+46T>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.289+46T>A
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9930
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4914
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10444
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

19-30498329-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498329
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498329
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 100974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.464-48T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.450-48T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.290-48T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.398-48T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.290-48T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.518-48T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*351-48T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.413-48T>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

19-30498339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498339
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498339
    reference: chr 19
allele count: 1
allele frequency: 9.778420980580055e-6
allele num: 102266
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.518-38G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.398-38G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*351-38G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.290-38G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.450-38G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.464-38G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.290-38G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.413-38G>A
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17210
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

19-30498341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498341
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498341
    reference: chr 19
allele count: 1
allele frequency: 9.754384595875846e-6
allele num: 102518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.464-36C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.450-36C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.413-36C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.398-36C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*351-36C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.518-36C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.290-36C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.290-36C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

19-30498343-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498343
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498343
    reference: chr 19
allele count: 3
allele frequency: 2.910473825138733e-5
allele num: 103076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.290-34A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.413-34A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.518-34A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.290-34A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.450-34A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*351-34A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.464-34A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.398-34A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14853
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20878
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-30498348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498348
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498348
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 103840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.464-29C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.413-29C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.398-29C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.450-29C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.518-29C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.290-29C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.290-29C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*351-29C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-30498355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498355
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498355
    reference: chr 19
allele count: 1679
allele frequency: 1.565647146587094e-2
allele num: 107240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.398-22G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.450-22G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.290-22G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*351-22G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.290-22G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.464-22G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.518-22G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.413-22G>A
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 2.75e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 1.75e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 1.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 31496
  bin: 2.25e1
  variant carriers: 359
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 11
num of homozygotes: 19
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-30498356-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498356
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498356
    reference: chr 19
allele count: 1
allele frequency: 9.270933768449159e-6
allele num: 107864
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.518-21T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.450-21T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.413-21T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.290-21T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.464-21T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*351-21T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.290-21T>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.398-21T>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32217
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

19-30498379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498379
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498379
    reference: chr 19
allele count: 4
allele frequency: 3.444237790177034e-5
allele num: 116136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*353A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.452A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.292A>G
  hgvsp: ENSP00000461895.1:p.Lys98Glu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.400A>G
  hgvsp: ENSP00000312530.6:p.Lys134Glu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.466A>G
  hgvsp: ENSP00000353817.4:p.Lys156Glu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.415A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.292A>G
  hgvsp: ENSP00000376097.1:p.Lys98Glu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.520A>G
  hgvsp: ENSP00000442436.2:p.Lys174Glu
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys174Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

19-30498383-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498383
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498383
    reference: chr 19
allele count: 1
allele frequency: 8.552856654122476e-6
allele num: 116920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.419A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.296A>T
  hgvsp: ENSP00000461895.1:p.His99Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.404A>T
  hgvsp: ENSP00000312530.6:p.His135Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.456A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.470A>T
  hgvsp: ENSP00000353817.4:p.His157Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*357A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.524A>T
  hgvsp: ENSP00000442436.2:p.His175Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.296A>T
  hgvsp: ENSP00000376097.1:p.His99Leu
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40080
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His175Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-30498384-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498384
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498384
    reference: chr 19
allele count: 1
allele frequency: 8.542919628212137e-6
allele num: 117056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.420C>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.405C>G
  hgvsp: ENSP00000312530.6:p.His135Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.297C>G
  hgvsp: ENSP00000376097.1:p.His99Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*358C>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.471C>G
  hgvsp: ENSP00000353817.4:p.His157Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.297C>G
  hgvsp: ENSP00000461895.1:p.His99Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.525C>G
  hgvsp: ENSP00000442436.2:p.His175Gln
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.457C>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His175Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-30498385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498385
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498385
    reference: chr 19
allele count: 1
allele frequency: 8.532714427113554e-6
allele num: 117196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.298C>T
  hgvsp: ENSP00000461895.1:p.Arg100Ter
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.472C>T
  hgvsp: ENSP00000353817.4:p.Arg158Ter
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.421C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.298C>T
  hgvsp: ENSP00000376097.1:p.Arg100Ter
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.406C>T
  hgvsp: ENSP00000312530.6:p.Arg136Ter
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.458C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.526C>T
  hgvsp: ENSP00000442436.2:p.Arg176Ter
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*359C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11476
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg176Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

19-30498386-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498386
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498386
    reference: chr 19
allele count: 1
allele frequency: 8.50311213904289e-6
allele num: 117604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.473G>T
  hgvsp: ENSP00000353817.4:p.Arg158Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.459G>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.407G>T
  hgvsp: ENSP00000312530.6:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.527G>T
  hgvsp: ENSP00000442436.2:p.Arg176Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.299G>T
  hgvsp: ENSP00000376097.1:p.Arg100Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.299G>T
  hgvsp: ENSP00000461895.1:p.Arg100Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.422G>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*360G>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg176Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-30498387-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498387
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498387
    reference: chr 19
allele count: 1
allele frequency: 8.489396743467409e-6
allele num: 117794
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.528A>C
  hgvsp: ENST00000542441.2:c.528A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.474A>C
  hgvsp: ENST00000360605.4:c.474A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*361A>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.300A>C
  hgvsp: ENST00000576442.1:c.300A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.300A>C
  hgvsp: ENST00000392271.1:c.300A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.423A>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.408A>C
  hgvsp: ENST00000312051.6:c.408A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.460A>C
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg176Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-30498389-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498389
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498389
    reference: chr 19
allele count: 1
allele frequency: 8.471704506946798e-6
allele num: 118040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.410T>C
  hgvsp: ENSP00000312530.6:p.Ile137Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.302T>C
  hgvsp: ENSP00000461895.1:p.Ile101Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.476T>C
  hgvsp: ENSP00000353817.4:p.Ile159Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.302T>C
  hgvsp: ENSP00000376097.1:p.Ile101Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.462T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*363T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.530T>C
  hgvsp: ENSP00000442436.2:p.Ile177Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.425T>C
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile177Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-30498395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498395
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498395
    reference: chr 19
allele count: 1
allele frequency: 8.426303549159055e-6
allele num: 118676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.431A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.308A>G
  hgvsp: ENSP00000376097.1:p.His103Arg
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.482A>G
  hgvsp: ENSP00000353817.4:p.His161Arg
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*369A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.468A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.536A>G
  hgvsp: ENSP00000442436.2:p.His179Arg
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.416A>G
  hgvsp: ENSP00000312530.6:p.His139Arg
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.308A>G
  hgvsp: ENSP00000461895.1:p.His103Arg
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His179Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-30498400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498400
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498400
    reference: chr 19
allele count: 2
allele frequency: 1.679599583459303e-5
allele num: 119076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.313C>T
  hgvsp: ENSP00000376097.1:p.Pro105Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.541C>T
  hgvsp: ENSP00000442436.2:p.Pro181Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.436C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.421C>T
  hgvsp: ENSP00000312530.6:p.Pro141Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.487C>T
  hgvsp: ENSP00000353817.4:p.Pro163Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.473C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.313C>T
  hgvsp: ENSP00000461895.1:p.Pro105Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*374C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro181Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-30498401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498401
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498401
    reference: chr 19
allele count: 1
allele frequency: 8.391937026904549e-6
allele num: 119162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.314C>T
  hgvsp: ENSP00000376097.1:p.Pro105Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.542C>T
  hgvsp: ENSP00000442436.2:p.Pro181Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*375C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.488C>T
  hgvsp: ENSP00000353817.4:p.Pro163Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.314C>T
  hgvsp: ENSP00000461895.1:p.Pro105Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.422C>T
  hgvsp: ENSP00000312530.6:p.Pro141Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.474C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.437C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro181Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

19-30498402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498402
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498402
    reference: chr 19
allele count: 3
allele frequency: 2.516145265453326e-5
allele num: 119230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.315G>A
  hgvsp: ENST00000576442.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*376G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.438G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.423G>A
  hgvsp: ENST00000312051.6:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.475G>A
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.543G>A
  hgvsp: ENST00000542441.2:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.315G>A
  hgvsp: ENST00000392271.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.489G>A
  hgvsp: ENST00000360605.4:c.489G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40283
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12651
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro181Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

19-30498403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498403
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498403
    reference: chr 19
allele count: 1
allele frequency: 8.378156470450242e-6
allele num: 119358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.476C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.316C>T
  hgvsp: ENSP00000461895.1:p.His106Tyr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.439C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*377C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.316C>T
  hgvsp: ENSP00000376097.1:p.His106Tyr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.490C>T
  hgvsp: ENSP00000353817.4:p.His164Tyr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.544C>T
  hgvsp: ENSP00000442436.2:p.His182Tyr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.424C>T
  hgvsp: ENSP00000312530.6:p.His142Tyr
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His182Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-30498413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498413
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498413
    reference: chr 19
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.434C>T
  hgvsp: ENSP00000312530.6:p.Pro145Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.449C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.554C>T
  hgvsp: ENSP00000442436.2:p.Pro185Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.500C>T
  hgvsp: ENSP00000353817.4:p.Pro167Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.326C>T
  hgvsp: ENSP00000376097.1:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*387C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.486C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.326C>T
  hgvsp: ENSP00000461895.1:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro185Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

19-30498418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498418
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498418
    reference: chr 19
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.331A>G
  hgvsp: ENSP00000461895.1:p.Thr111Ala
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*392A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.331A>G
  hgvsp: ENSP00000376097.1:p.Thr111Ala
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.559A>G
  hgvsp: ENSP00000442436.2:p.Thr187Ala
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.505A>G
  hgvsp: ENSP00000353817.4:p.Thr169Ala
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.439A>G
  hgvsp: ENSP00000312530.6:p.Thr147Ala
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.454A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.491A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr187Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-30498418-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498418
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498418
    reference: chr 19
allele count: 2
allele frequency: 1.666944490748458e-5
allele num: 119980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.331A>T
  hgvsp: ENSP00000376097.1:p.Thr111Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.559A>T
  hgvsp: ENSP00000442436.2:p.Thr187Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.505A>T
  hgvsp: ENSP00000353817.4:p.Thr169Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.439A>T
  hgvsp: ENSP00000312530.6:p.Thr147Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.331A>T
  hgvsp: ENSP00000461895.1:p.Thr111Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.454A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*392A>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.491A>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr187Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-30498425-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498425
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498425
    reference: chr 19
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.338A>C
  hgvsp: ENSP00000376097.1:p.Asp113Ala
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.566A>C
  hgvsp: ENSP00000442436.2:p.Asp189Ala
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.461A>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.512A>C
  hgvsp: ENSP00000353817.4:p.Asp171Ala
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.446A>C
  hgvsp: ENSP00000312530.6:p.Asp149Ala
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*399A>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.498A>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.338A>C
  hgvsp: ENSP00000461895.1:p.Asp113Ala
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp189Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-30498428-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498428
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498428
    reference: chr 19
allele count: 3
allele frequency: 2.49488548475625e-5
allele num: 120246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.515T>C
  hgvsp: ENSP00000353817.4:p.Ile172Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.569T>C
  hgvsp: ENSP00000442436.2:p.Ile190Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.341T>C
  hgvsp: ENSP00000461895.1:p.Ile114Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.341T>C
  hgvsp: ENSP00000376097.1:p.Ile114Thr
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*402T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.501T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.464T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.449T>C
  hgvsp: ENSP00000312530.6:p.Ile150Thr
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49066
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile190Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

19-30498440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498440
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498440
    reference: chr 19
allele count: 4
allele frequency: 3.318620781203332e-5
allele num: 120532
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.581A>G
  hgvsp: ENSP00000442436.2:p.Asp194Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.353A>G
  hgvsp: ENSP00000461895.1:p.Asp118Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.461A>G
  hgvsp: ENSP00000312530.6:p.Asp154Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.527A>G
  hgvsp: ENSP00000353817.4:p.Asp176Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.476A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.353A>G
  hgvsp: ENSP00000376097.1:p.Asp118Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.513A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*414A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp194Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

19-30498441-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498441
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498441
    reference: chr 19
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.582T>C
  hgvsp: ENST00000542441.2:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.354T>C
  hgvsp: ENST00000576442.1:c.354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.528T>C
  hgvsp: ENST00000360605.4:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.462T>C
  hgvsp: ENST00000312051.6:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*415T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.514T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.477T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.354T>C
  hgvsp: ENST00000392271.1:c.354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp194Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-30498448-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498448
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498448
    reference: chr 19
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.361A>G
  hgvsp: ENSP00000461895.1:p.Asn121Asp
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.521A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*422A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.469A>G
  hgvsp: ENSP00000312530.6:p.Asn157Asp
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.589A>G
  hgvsp: ENSP00000442436.2:p.Asn197Asp
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.361A>G
  hgvsp: ENSP00000376097.1:p.Asn121Asp
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.535A>G
  hgvsp: ENSP00000353817.4:p.Asn179Asp
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.484A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14048
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn197Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

19-30498449-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498449
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498449
    reference: chr 19
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.536A>G
  hgvsp: ENSP00000353817.4:p.Asn179Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*423A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.362A>G
  hgvsp: ENSP00000461895.1:p.Asn121Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.590A>G
  hgvsp: ENSP00000442436.2:p.Asn197Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.362A>G
  hgvsp: ENSP00000376097.1:p.Asn121Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.485A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.470A>G
  hgvsp: ENSP00000312530.6:p.Asn157Ser
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.522A>G
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn197Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

19-30498452-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498452
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498452
    reference: chr 19
allele count: 335
allele frequency: 2.775016567263088e-3
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.488A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.473A>G
  hgvsp: ENSP00000312530.6:p.Asp158Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.525A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.593A>G
  hgvsp: ENSP00000442436.2:p.Asp198Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.539A>G
  hgvsp: ENSP00000353817.4:p.Asp180Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.365A>G
  hgvsp: ENSP00000376097.1:p.Asp122Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*426A>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461895
  ensembl transcript: ENST00000576442
  gene symbol: URI1
  hgvsc: ENST00000576442.1:c.365A>G
  hgvsp: ENSP00000461895.1:p.Asp122Gly
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 39735
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 14019
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 9.75e1
  variant carriers: 330
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp198Gly
num of homozygotes: 5
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-30498472-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498472
    reference: chr 19
allele count: 3
allele frequency: 2.48184119525472e-5
allele num: 120878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.493C>G
  hgvsp: ENSP00000312530.6:p.Leu165Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*446C>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.545C>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.613C>G
  hgvsp: ENSP00000442436.2:p.Leu205Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.508C>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.385C>G
  hgvsp: ENSP00000376097.1:p.Leu129Val
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.559C>G
  hgvsp: ENSP00000353817.4:p.Leu187Val
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu205Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

19-30498473-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498473
    reference: chr 19
allele count: 4
allele frequency: 3.308409978164494e-5
allele num: 120904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.509T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*447T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.560T>C
  hgvsp: ENSP00000353817.4:p.Leu187Pro
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.614T>C
  hgvsp: ENSP00000442436.2:p.Leu205Pro
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.386T>C
  hgvsp: ENSP00000376097.1:p.Leu129Pro
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.546T>C
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.494T>C
  hgvsp: ENSP00000312530.6:p.Leu165Pro
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50024
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu205Pro
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

19-30498476-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498476
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498476
    reference: chr 19
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.512C>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.389C>G
  hgvsp: ENSP00000376097.1:p.Ala130Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000570704
  gene symbol: URI1
  hgvsc: ENST00000570704.1:n.549C>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.497C>G
  hgvsp: ENSP00000312530.6:p.Ala166Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*450C>G
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.617C>G
  hgvsp: ENSP00000442436.2:p.Ala206Gly
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.563C>G
  hgvsp: ENSP00000353817.4:p.Ala188Gly
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala206Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-30498487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498487
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498487
    reference: chr 19
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.508C>T
  hgvsp: ENST00000312051.6:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.574C>T
  hgvsp: ENST00000360605.4:c.574C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.523C>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.400C>T
  hgvsp: ENST00000392271.1:c.400C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.628C>T
  hgvsp: ENST00000542441.2:c.628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*461C>T
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu210Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

19-30498497-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30498497
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 30498497
    reference: chr 19
allele count: 2
allele frequency: 1.65461555007694e-5
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000442436
  ensembl transcript: ENST00000542441
  gene symbol: URI1
  hgvsc: ENST00000542441.2:c.638G>T
  hgvsp: ENSP00000442436.2:p.Arg213Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105176
  ensembl transcript: ENST00000574176
  gene symbol: URI1
  hgvsc: ENST00000574176.1:n.533G>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000376097
  ensembl transcript: ENST00000392271
  gene symbol: URI1
  hgvsc: ENST00000392271.1:c.410G>T
  hgvsp: ENSP00000376097.1:p.Arg137Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000312530
  ensembl transcript: ENST00000312051
  gene symbol: URI1
  hgvsc: ENST00000312051.6:c.518G>T
  hgvsp: ENSP00000312530.6:p.Arg173Leu
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000461003
  ensembl transcript: ENST00000574110
  gene symbol: URI1
  hgvsc: ENST00000574110.1:c.*471G>T
  variant of: http://identifiers.org/hgnc/13236
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105176
  ensembl protein: ENSP00000353817
  ensembl transcript: ENST00000360605
  gene symbol: URI1
  hgvsc: ENST00000360605.4:c.584G>T
  hgvsp: ENSP00000353817.4:p.Arg195Leu
  variant of: http://identifiers.org/hgnc/13236
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Arg213Leu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 15093
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3330
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3776
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.309e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.107e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 2.025959e6

GenotypeQuality
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bin: 7.25e1
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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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56318
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.45602795573675e-4
allele num: 13736
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

MQ
type: SiteQuality
SIO_000300: 6.077e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.86e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

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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bin: 9.75e1
variant carriers: 4

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: 6360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53940
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.868471953578336e-4
allele num: 10340
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13074
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.556e1

InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

DP
type: SiteQuality
SIO_000300: 1.183932e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 4.154e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 288
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.773049645390071e-3
allele num: 6204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.177819e6

FS
type: SiteQuality
SIO_000300: 3.235e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-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: 13030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.604106512672441e-4
allele num: 6234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53334
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.096e0

VQSLOD
type: SiteQuality
SIO_000300: -2.735e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

DP
type: SiteQuality
SIO_000300: 1.177012e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.951e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.897173211914248e-5
allele num: 52710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.178712e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

FS
type: SiteQuality
SIO_000300: 4.059e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-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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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.048999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

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

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

DP
type: SiteQuality
SIO_000300: 2.311332e6

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

South Asian
type: Population
allele count: 1
allele frequency: 6.087168249330411e-5
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024620410138528e-5
allele num: 66124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.445e0

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.825928180158247e-4
allele num: 16430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.516e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 5

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1037
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6623
bin: 6.75e1
variant carriers: 1

South Asian
type: Population
allele count: 15
allele frequency: 1.062022090059473e-3
allele num: 14124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.078185922429715e-4
allele num: 9746
num of homozygotes: 0

East Asian
type: Population
allele count: 26
allele frequency: 3.282828282828283e-3
allele num: 7920
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.213592233009709e-3
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 9.68804495252858e-4
allele num: 10322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 7.316992051085909e-4
allele num: 60134
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

QD
type: SiteQuality
SIO_000300: 7.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.09e-2

DP
type: SiteQuality
SIO_000300: 2.610578e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 2988
bin: 2.5e0
variant carriers: 45

GenotypeQuality
all individuals: 1451
bin: 3.25e1
variant carriers: 22

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 9

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 947
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 7

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 7

GenotypeQuality
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bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1375
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1431
bin: 4.25e1
variant carriers: 16

Latino
type: Population
allele count: 16
allele frequency: 1.550087192404573e-3
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.205128205128205e-4
allele num: 6240
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 1.770036816765789e-3
allele num: 14124
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.854368932038835e-3
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 183
allele frequency: 3.043203512156185e-3
allele num: 60134
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.234557767289145e-4
allele num: 9746
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.515151515151515e-3
allele num: 7920
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.09e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 2.610578e6

GenotypeQuality
all individuals: 2254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1375
bin: 5.25e1
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GenotypeQuality
all individuals: 1359
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.662952738883161e-5
allele num: 60134
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.610578e6

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 7.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.09e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 81
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GenotypeQuality
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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: 9984
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3784
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520523175215478e-5
allele num: 66364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

FS
type: SiteQuality
SIO_000300: 1.202e0

DP
type: SiteQuality
SIO_000300: 2.365655e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 9978
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 60
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GenotypeQuality
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GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 9946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26214
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

VQSLOD
type: SiteQuality
SIO_000300: -3.821e0

FS
type: SiteQuality
SIO_000300: 1.785e0

DP
type: SiteQuality
SIO_000300: 2.366313e6

QD
type: SiteQuality
SIO_000300: 2.44e1

GenotypeQuality
all individuals: 277
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9986
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3781
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 4301
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variant carriers: 0

GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 9963
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 26441
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GenotypeQuality
all individuals: 2862
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variant carriers: 0

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1200
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variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
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: 11414
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e0

DP
type: SiteQuality
SIO_000300: 2.367608e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: -7.66e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e0

FS
type: SiteQuality
SIO_000300: 1.202e0

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.84e0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 1200
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 9967
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 274
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GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
all individuals: 9984
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.670520231213873e-4
allele num: 10380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 1
allele frequency: 8.751969193068441e-5
allele num: 11426
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 3.542e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.411e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.368644e6

QD
type: SiteQuality
SIO_000300: 1.108e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 1201
bin: 8.75e1
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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GenotypeQuality
all individuals: 1595
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321262766945218e-4
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.368458e6

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 4.28e-1

QD
type: SiteQuality
SIO_000300: 8.82e0

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 269
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 3779
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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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8616
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 2.17e-1

MQRankSum
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ReadPosRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 4.28e-1

ClippingRankSum
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SIO_000300: 3.81e-1

MQ
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SIO_000300: 5.934e1

InbreedingCoeff
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SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 8.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-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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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
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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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 4.816027740319784e-4
allele num: 10382
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

Latino
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allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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MQRankSum
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SIO_000300: 2.12e-1

MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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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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South Asian
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allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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Latino
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -1.564e0

MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.754e1

DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66522
num of homozygotes: 0

African
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allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
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Latino
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allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

MQRankSum
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MQ
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QD
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

GenotypeQuality
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variant carriers: 2

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16492
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00724746639401e-5
allele num: 66506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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DP
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MQ
type: SiteQuality
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VQSLOD
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QD
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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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variant carriers: 17

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
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Other
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South Asian
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East Asian
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allele frequency: 1.85614849187935e-3
allele num: 8620
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FS
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SIO_000300: 5.5e-1

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

Other
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num of homozygotes: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.047e0

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

FS
type: SiteQuality
SIO_000300: 1.225e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

QD
type: SiteQuality
SIO_000300: 7.88e0

DP
type: SiteQuality
SIO_000300: 2.366542e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
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GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 8.670520231213873e-4
allele num: 10380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 1.492e1

DP
type: SiteQuality
SIO_000300: 2.366423e6

GenotypeQuality
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bin: 3.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3760
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.441e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 2.365211e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.113e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.782e0

QD
type: SiteQuality
SIO_000300: 1.366e1

MQ
type: SiteQuality
SIO_000300: 6.096e1

MQRankSum
type: SiteQuality
SIO_000300: -1.002e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1587
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variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.821272462360369e-4
allele num: 16472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.011e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.68e-1

FS
type: SiteQuality
SIO_000300: 9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 2.359667e6

VQSLOD
type: SiteQuality
SIO_000300: -8.58e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 3738
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variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.324e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.423e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.233e-1

DP
type: SiteQuality
SIO_000300: 2.358062e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 105
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variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 11372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.802e1

VQSLOD
type: SiteQuality
SIO_000300: -2.817e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

FS
type: SiteQuality
SIO_000300: 1.9001e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

QD
type: SiteQuality
SIO_000300: 1.167e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.339545e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.317e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.325495e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.083e0

VQSLOD
type: SiteQuality
SIO_000300: -4.427e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-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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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 71
allele frequency: 1.079355427181514e-2
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.787534466563646e-4
allele num: 66006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.517e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.281969e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

GenotypeQuality
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bin: 2.25e1
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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.43605359317905e-4
allele num: 16420
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.281969e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e0

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
all individuals: 8651
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GenotypeQuality
all individuals: 1176
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515564851019975e-5
allele num: 65982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 2.26543e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.352e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

GenotypeQuality
all individuals: 9934
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 661
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518326197200206e-5
allele num: 65862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

MQ
type: SiteQuality
SIO_000300: 5.408e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

DP
type: SiteQuality
SIO_000300: 2.235946e6

QD
type: SiteQuality
SIO_000300: 5.51e0

MQRankSum
type: SiteQuality
SIO_000300: -7.694e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

GenotypeQuality
all individuals: 336
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3890
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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
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.439e1

DP
type: SiteQuality
SIO_000300: 2.191778e6

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 875
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7299
bin: 2.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6878
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.071322e6

QD
type: SiteQuality
SIO_000300: 1.065e1

GenotypeQuality
all individuals: 2857
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7085
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 531
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variant carriers: 0

GenotypeQuality
all individuals: 6574
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6966
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.031778786628147e-4
allele num: 9692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14684
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 3.979e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.816e0

QD
type: SiteQuality
SIO_000300: 1.523e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 1.119626e6

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

GenotypeQuality
all individuals: 793
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2612
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8374
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 7.5e0
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GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2545
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.103509159126021e-4
allele num: 9062
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.135487e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

GenotypeQuality
all individuals: 2119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8423
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 282
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6485
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variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.804142310745472e-5
allele num: 55428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.831257078142696e-4
allele num: 7064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.02e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.156496e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

QD
type: SiteQuality
SIO_000300: 6.56e0

GenotypeQuality
all individuals: 1317
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.5e0
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GenotypeQuality
all individuals: 2139
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27652
bin: 6.25e1
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GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 8291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
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GenotypeQuality
all individuals: 167
bin: 1.25e1
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GenotypeQuality
all individuals: 789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.763e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

VQSLOD
type: SiteQuality
SIO_000300: -3.309e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

DP
type: SiteQuality
SIO_000300: 1.208282e6

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3649
bin: 9.75e1
variant carriers: 1604

GenotypeQuality
all individuals: 101
bin: 1.75e1
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GenotypeQuality
all individuals: 552
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2241
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34215
bin: 6.25e1
variant carriers: 7

GenotypeQuality
all individuals: 509
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 6840
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 852
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 888
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1871
bin: 3.75e1
variant carriers: 3

African
type: Population
allele count: 32
allele frequency: 3.415883859948762e-3
allele num: 9368
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.312649164677804e-2
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 44
allele frequency: 2.906208718626156e-3
allele num: 15140
num of homozygotes: 0

Latino
type: Population
allele count: 115
allele frequency: 1.121951219512195e-2
allele num: 10250
num of homozygotes: 2

East Asian
type: Population
allele count: 2
allele frequency: 2.696871628910464e-4
allele num: 7416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 124
allele frequency: 1.976410583359898e-2
allele num: 6274
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1351
allele frequency: 2.331159195223798e-2
allele num: 57954
num of homozygotes: 16

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

DP
type: SiteQuality
SIO_000300: 1.304482e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
all individuals: 611
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 627
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.25e1
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GenotypeQuality
all individuals: 3483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6684
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.713913550200528e-5
allele num: 58346
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.457e0

FS
type: SiteQuality
SIO_000300: 3.729e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.308685e6

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
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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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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.725004725004725e-5
allele num: 63492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.015506671474937e-5
allele num: 11092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.163e0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

DP
type: SiteQuality
SIO_000300: 1.442761e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 1.259e1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563232765358762e-5
allele num: 63970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
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: 8314
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

FS
type: SiteQuality
SIO_000300: 4.712e0

VQSLOD
type: SiteQuality
SIO_000300: -1.595e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

DP
type: SiteQuality
SIO_000300: 1.453376e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

GenotypeQuality
all individuals: 315
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 640
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.938382031405287e-5
allele num: 10062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64058
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.123e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

FS
type: SiteQuality
SIO_000300: 4.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.385e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: -7.672e-1

DP
type: SiteQuality
SIO_000300: 1.455813e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e0

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

GenotypeQuality
all individuals: 2103
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GenotypeQuality
all individuals: 334
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558895055184885e-5
allele num: 64148
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

QD
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

DP
type: SiteQuality
SIO_000300: 1.460238e6

VQSLOD
type: SiteQuality
SIO_000300: -2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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
all individuals: 1063
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variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552216565255184e-5
allele num: 64424
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 2.367e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.191e1

DP
type: SiteQuality
SIO_000300: 1.465647e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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bin: 6.25e1
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
all individuals: 1077
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variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.198090987975704e-5
allele num: 16134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.606e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.466872e6

QD
type: SiteQuality
SIO_000300: 1.126e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.852216748768474e-5
allele num: 10150
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64682
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.46991e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.19e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65126
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.162188809465122e-5
allele num: 16228
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.06e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.480422e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4384
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GenotypeQuality
all individuals: 48131
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.058665198507371e-5
allele num: 65388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.859999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 9.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.486446e6

FS
type: SiteQuality
SIO_000300: 5.251e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeQuality
all individuals: 239
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
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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
all individuals: 646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.144015728680265e-5
allele num: 16276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.144e0

DP
type: SiteQuality
SIO_000300: 1.488411e6

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.132e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 216
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GenotypeQuality
all individuals: 1073
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.930832356389214e-4
allele num: 10236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

FS
type: SiteQuality
SIO_000300: 9.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.491739e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.004e-1

QD
type: SiteQuality
SIO_000300: 1.282e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4423
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.679e0

QD
type: SiteQuality
SIO_000300: 1.005e1

FS
type: SiteQuality
SIO_000300: 5.884e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.888e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

DP
type: SiteQuality
SIO_000300: 1.491693e6

MQ
type: SiteQuality
SIO_000300: 5.879e1

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 328
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variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518187890933382e-5
allele num: 65868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 8.311999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 1.499852e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.737e-1

QD
type: SiteQuality
SIO_000300: 9.9e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 328
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515427047341941e-5
allele num: 65988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.1006e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.518e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 1.501585e6

QD
type: SiteQuality
SIO_000300: 7.18e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65988
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.223391240518718e-4
allele num: 16348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 1.1006e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.518e0

DP
type: SiteQuality
SIO_000300: 1.501585e6

QD
type: SiteQuality
SIO_000300: 7.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

GenotypeQuality
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bin: 9.25e1
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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bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51290508033526e-5
allele num: 66098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.587e1

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.50459e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 4.147e0

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 4.75e1
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: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.04228780042592e-4
allele num: 6574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511761504505049e-5
allele num: 66148
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.864e1

FS
type: SiteQuality
SIO_000300: 5.091e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
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
all individuals: 329
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.830384380719951e-4
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
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: 6582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.372e1

DP
type: SiteQuality
SIO_000300: 1.511486e6

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.935e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

FS
type: SiteQuality
SIO_000300: 2.904e0

DP
type: SiteQuality
SIO_000300: 1.51182e6

QD
type: SiteQuality
SIO_000300: 3.058e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.513462e6

QD
type: SiteQuality
SIO_000300: 1.559e1

VQSLOD
type: SiteQuality
SIO_000300: -4.429e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 8.989000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
all individuals: 80
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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: 0

GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 9
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505797319680771e-5
allele num: 66410
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 1.172e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 1.513716e6

QD
type: SiteQuality
SIO_000300: 1.024e1

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

GenotypeQuality
all individuals: 377
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variant carriers: 0

GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 114
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 323
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 1048
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GenotypeQuality
all individuals: 1033
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GenotypeQuality
all individuals: 624
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 182
allele frequency: 2.739396128721515e-3
allele num: 66438
num of homozygotes: 2

African
type: Population
allele count: 2
allele frequency: 1.927153594141453e-4
allele num: 10378
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.496503496503497e-4
allele num: 11440
num of homozygotes: 0

South Asian
type: Population
allele count: 142
allele frequency: 8.658536585365854e-3
allele num: 16400
num of homozygotes: 3

Other
type: Population
allele count: 4
allele frequency: 4.424778761061947e-3
allele num: 904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-2

QD
type: SiteQuality
SIO_000300: 1.47e1

DP
type: SiteQuality
SIO_000300: 1.524627e6

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 4474
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GenotypeQuality
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GenotypeQuality
all individuals: 49976
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GenotypeQuality
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GenotypeQuality
all individuals: 322
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GenotypeQuality
all individuals: 267
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GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509650652396128e-5
allele num: 66524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.861e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.422e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.568e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.519299e6

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 624
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.849114703618168e-4
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.519374e6

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

FS
type: SiteQuality
SIO_000300: 6.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.519907e6

QD
type: SiteQuality
SIO_000300: 7.76e0

VQSLOD
type: SiteQuality
SIO_000300: -1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.297e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 35
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GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.146e0

VQSLOD
type: SiteQuality
SIO_000300: -6.274999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.252e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 1.520405e6