3-128849417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849417
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849417
    reference: chr 3
allele count: 2
allele frequency: 1.657055743355207e-5
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.726C>T
  hgvsp: ENST00000418265.1:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.130C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.372C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.418C>T
  hgvsp: ENSP00000426416.1:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.730C>T
  hgvsp: ENSP00000376970.3:p.Arg244Cys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.726C>T
  hgvsp: ENST00000393295.3:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.792C>T
  hgvsp: ENST00000273541.8:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg244Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-128849432-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849432
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849432
    reference: chr 3
allele count: 6
allele frequency: 4.970755389127301e-5
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.711G>A
  hgvsp: ENST00000393295.3:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.403G>A
  hgvsp: ENSP00000426416.1:p.Glu135Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.357G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.115G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.715G>A
  hgvsp: ENSP00000376970.3:p.Glu239Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.777G>A
  hgvsp: ENST00000273541.8:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.711G>A
  hgvsp: ENST00000418265.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42969
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu239Lys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-128849433-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849433
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849433
    reference: chr 3
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.710A>C
  hgvsp: ENSP00000411822.1:p.Gln237Pro
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.714A>C
  hgvsp: ENST00000393292.3:c.714A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.402A>C
  hgvsp: ENST00000496163.1:c.402A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.710A>C
  hgvsp: ENSP00000376973.3:p.Gln237Pro
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.776A>C
  hgvsp: ENSP00000273541.8:p.Gln259Pro
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.356A>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.114A>C
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39222
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln237Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-128849442-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849442
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849442
    reference: chr 3
allele count: 3
allele frequency: 2.48541887592789e-5
allele num: 120704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.701A>T
  hgvsp: ENSP00000376973.3:p.Asp234Val
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.705A>T
  hgvsp: ENST00000393292.3:c.705A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.393A>T
  hgvsp: ENST00000496163.1:c.393A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.105A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.767A>T
  hgvsp: ENSP00000273541.8:p.Asp256Val
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.701A>T
  hgvsp: ENSP00000411822.1:p.Asp234Val
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.347A>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp234Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

3-128849442-T-TCGTCCCCTCCTTTCTCCTGGCTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849442
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849466
    reference: chr 3
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: TCGTCCCCTCCTTTCTCCTGGCTGC
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsp: ENSP00000411822.1:p.Gly226_Asp233dup
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsp: ENSP00000376973.3:p.Gly226_Asp233dup
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsp: ENSP00000376970.3:p.Gln228_Arg235dup
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsp: ENSP00000426416.1:p.Gln124_Arg131dup
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsp: ENSP00000273541.8:p.Gly248_Asp255dup
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18392
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly226_Asp233dup
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-128849443-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849443
    reference: chr 3
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.766G>T
  hgvsp: ENSP00000273541.8:p.Asp256Tyr
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.104G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.700G>T
  hgvsp: ENSP00000411822.1:p.Asp234Tyr
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.704G>T
  hgvsp: ENSP00000376970.3:p.Arg235Leu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.700G>T
  hgvsp: ENSP00000376973.3:p.Asp234Tyr
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.392G>T
  hgvsp: ENSP00000426416.1:p.Arg131Leu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.346G>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp234Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-128849444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849444
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849444
    reference: chr 3
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.345C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.699C>T
  hgvsp: ENST00000418265.1:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.765C>T
  hgvsp: ENST00000273541.8:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.703C>T
  hgvsp: ENSP00000376970.3:p.Arg235Ter
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.391C>T
  hgvsp: ENSP00000426416.1:p.Arg131Ter
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.699C>T
  hgvsp: ENST00000393295.3:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.103C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg235Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-128849474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849474
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849474
    reference: chr 3
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.673C>T
  hgvsp: ENSP00000376970.3:p.Arg225Ter
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.669C>T
  hgvsp: ENST00000418265.1:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.669C>T
  hgvsp: ENST00000393295.3:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.315C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.361C>T
  hgvsp: ENSP00000426416.1:p.Arg121Ter
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.73C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.735C>T
  hgvsp: ENST00000273541.8:c.735C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg225Ter
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

3-128849478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849478
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849478
    reference: chr 3
allele count: 7
allele frequency: 5.803156917363046e-5
allele num: 120624
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.665C>T
  hgvsp: ENSP00000411822.1:p.Ser222Leu
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.311C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.731C>T
  hgvsp: ENSP00000273541.8:p.Ser244Leu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.357C>T
  hgvsp: ENST00000496163.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.665C>T
  hgvsp: ENSP00000376973.3:p.Ser222Leu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.669C>T
  hgvsp: ENST00000393292.3:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.69C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser222Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-128849482-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849482
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849481
    reference: chr 3
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4delG
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.664-4delG
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.668-4delG
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.64delG
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.356-4delG
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.664-4delG
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.730-4delG
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
hgvs: c.664-4delG
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: AC
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-128849486-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849486
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849486
    reference: chr 3
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.730-7T>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.664-7T>G
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.668-7T>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.61T>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.356-7T>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.664-7T>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-7T>G
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
hgvs: c.664-7T>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

3-128849497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849497
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849497
    reference: chr 3
allele count: 4
allele frequency: 3.326624640308711e-5
allele num: 120242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.664-18C>T
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.356-18C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.730-18C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.668-18C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-18C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.50C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.664-18C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

3-128849498-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849498
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849498
    reference: chr 3
allele count: 10
allele frequency: 8.320852055250458e-5
allele num: 120180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.49T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.664-19T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.356-19T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-19T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.664-19T>C
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.730-19T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.668-19T>C
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26636
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18302
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

3-128849515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849515
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849515
    reference: chr 3
allele count: 2
allele frequency: 1.67470525187567e-5
allele num: 119424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.664-36C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.664-36C>T
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.730-36C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-36C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.32C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.356-36C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.668-36C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15671
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5014
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-128849518-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849518
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849518
    reference: chr 3
allele count: 1
allele frequency: 8.383775717232013e-6
allele num: 119278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-39G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.730-39G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.664-39G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.356-39G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.29G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.668-39G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.664-39G>T
  variant of: http://identifiers.org/hgnc/42969
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24455
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-128849524-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849524
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849524
    reference: chr 3
allele count: 1
allele frequency: 8.415808254224735e-6
allele num: 118824
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.730-45C>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.664-45C>G
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.23C>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.668-45C>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.356-45C>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-45C>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.664-45C>G
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4887
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5011
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-128849526-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128849526
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128849526
    reference: chr 3
allele count: 1
allele frequency: 8.418925745074929e-6
allele num: 118780
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.664-47A>G
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.356-47A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.730-47A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471306
  gene symbol: ISY1
  hgvsc: ENST00000471306.1:n.21A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-47A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.668-47A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.664-47A>G
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

3-128852866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852866
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852866
    reference: chr 3
allele count: 6
allele frequency: 4.988111667193189e-5
allele num: 120286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3387G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.729+51G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.667+51G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.663+51G>A
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.663+51G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+809G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42944
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-128852870-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852870
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852870
    reference: chr 3
allele count: 4
allele frequency: 3.32408130702877e-5
allele num: 120334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.667+47C>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.663+47C>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3391C>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+805C>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.663+47C>A
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.729+47C>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42942
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-128852871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852871
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852871
    reference: chr 3
allele count: 2
allele frequency: 1.663533678239316e-5
allele num: 120226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.663+46G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.667+46G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.729+46G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3392G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+804G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.663+46G>A
  variant of: http://identifiers.org/hgnc/42969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

3-128852879-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852879
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852879
    reference: chr 3
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+796T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3400T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.729+38T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.667+38T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.663+38T>C
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.663+38T>C
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 158
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genotype quality: GenotypeQuality
  all individuals: 85
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genotype quality: GenotypeQuality
  all individuals: 42944
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 339
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genotype quality: GenotypeQuality
  all individuals: 1540
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genotype quality: GenotypeQuality
  all individuals: 120
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

3-128852887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852887
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852887
    reference: chr 3
allele count: 13
allele frequency: 1.079142662660004e-4
allele num: 120466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.667+30C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3408C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.729+30C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.663+30C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.663+30C>T
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+788C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3099
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 84
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43
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genotype quality: GenotypeQuality
  all individuals: 42944
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1838
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1539
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genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-128852894-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852894
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852892
    reference: chr 3
allele count: 2
allele frequency: 1.660191918185742e-5
allele num: 120468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.667+21_667+22delTG
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+779_355+780delTG
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.663+21_663+22delTG
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.729+21_729+22delTG
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3417_310-3416delTG
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.663+21_663+22delTG
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1005
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CCA
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-128852899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852899
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852899
    reference: chr 3
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.663+18C>T
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.729+18C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.667+18C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.663+18C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3420C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+776C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

3-128852920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852920
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852920
    reference: chr 3
allele count: 2
allele frequency: 1.656781205474005e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+755G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3441G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.660G>A
  hgvsp: ENST00000418265.1:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.726G>A
  hgvsp: ENST00000273541.8:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.660G>A
  hgvsp: ENST00000393295.3:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*407G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.664G>A
  hgvsp: ENSP00000376970.3:p.Gly222Arg
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42957
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly222Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-128852926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852926
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852926
    reference: chr 3
allele count: 5
allele frequency: 4.142570713682082e-5
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.654C>T
  hgvsp: ENST00000418265.1:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3447C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.654C>T
  hgvsp: ENST00000393295.3:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.658C>T
  hgvsp: ENSP00000376970.3:p.Arg220Ter
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*401C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+749C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.720C>T
  hgvsp: ENST00000273541.8:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg220Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-128852936-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852936
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852936
    reference: chr 3
allele count: 2
allele frequency: 1.656397005234214e-5
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+739A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.648A>G
  hgvsp: ENST00000393292.3:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.644A>G
  hgvsp: ENSP00000376973.3:p.Tyr215Cys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.644A>G
  hgvsp: ENSP00000411822.1:p.Tyr215Cys
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*391A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3457A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.710A>G
  hgvsp: ENSP00000273541.8:p.Tyr237Cys
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr215Cys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-128852946-TCTCTTCCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852946
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852937
    reference: chr 3
allele count: 5
allele frequency: 4.140855335078013e-5
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.629_637delGAGGAAGAG
  hgvsp: ENSP00000376970.3:p.Gly210_Arg212del
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.691_699delGAGGAAGAG
  hgvsp: ENSP00000273541.8:p.Glu231_Glu233del
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.625_633delGAGGAAGAG
  hgvsp: ENSP00000411822.1:p.Glu209_Glu211del
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.625_633delGAGGAAGAG
  hgvsp: ENSP00000376973.3:p.Glu209_Glu211del
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu209_Glu211del
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: TCTCTTCCTC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

3-128852952-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852952
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852952
    reference: chr 3
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*375G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3473G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.628G>C
  hgvsp: ENSP00000411822.1:p.Glu210Gln
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.632G>C
  hgvsp: ENSP00000376970.3:p.Gly211Ala
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.628G>C
  hgvsp: ENSP00000376973.3:p.Glu210Gln
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.694G>C
  hgvsp: ENSP00000273541.8:p.Glu232Gln
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+723G>C
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu210Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

3-128852959-TTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852959
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852956
    reference: chr 3
allele count: 4
allele frequency: 3.312684268062411e-5
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.618_620delGGA
  hgvsp: ENSP00000376973.3:p.Glu211del
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.684_686delGGA
  hgvsp: ENSP00000273541.8:p.Glu233del
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*365_*367delGGA
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3483_310-3481delGGA
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.622_624delGGA
  hgvsp: ENSP00000376970.3:p.Gly208del
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.618_620delGGA
  hgvsp: ENSP00000411822.1:p.Glu211del
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+713_355+715delGGA
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu211del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: TTCC
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-128852967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852967
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852967
    reference: chr 3
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.613G>A
  hgvsp: ENSP00000376973.3:p.Glu205Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*360G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.679G>A
  hgvsp: ENSP00000273541.8:p.Glu227Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3488G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.613G>A
  hgvsp: ENSP00000411822.1:p.Glu205Lys
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.617G>A
  hgvsp: ENSP00000376970.3:p.Gly206Glu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+708G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu205Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-128852973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852973
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852973
    reference: chr 3
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3494G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*354G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.673G>A
  hgvsp: ENSP00000273541.8:p.Glu225Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.611G>A
  hgvsp: ENSP00000376970.3:p.Gly204Glu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.607G>A
  hgvsp: ENSP00000376973.3:p.Glu203Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.607G>A
  hgvsp: ENSP00000411822.1:p.Glu203Lys
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+702G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu203Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

3-128852982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852982
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852982
    reference: chr 3
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3503G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.598G>A
  hgvsp: ENSP00000376973.3:p.Gly200Arg
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.664G>A
  hgvsp: ENSP00000273541.8:p.Gly222Arg
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.602G>A
  hgvsp: ENSP00000376970.3:p.Arg201Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*345G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.598G>A
  hgvsp: ENSP00000411822.1:p.Gly200Arg
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+693G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43016
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly200Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

3-128852985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852985
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852985
    reference: chr 3
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.595A>G
  hgvsp: ENSP00000376973.3:p.Arg199Gly
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3506A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+690A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.599A>G
  hgvsp: ENSP00000376970.3:p.Lys200Arg
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.595A>G
  hgvsp: ENSP00000411822.1:p.Arg199Gly
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*342A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.661A>G
  hgvsp: ENSP00000273541.8:p.Arg221Gly
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg199Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

3-128852993-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852993
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852993
    reference: chr 3
allele count: 12
allele frequency: 1.01276078590237e-4
allele num: 118488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.587G>C
  hgvsp: ENSP00000376973.3:p.Arg196Pro
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.591G>C
  hgvsp: ENST00000393292.3:c.591G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.653G>C
  hgvsp: ENSP00000273541.8:p.Arg218Pro
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3514G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*334G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.587G>C
  hgvsp: ENSP00000411822.1:p.Arg196Pro
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+682G>C
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg196Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

3-128852993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852993
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852993
    reference: chr 3
allele count: 4
allele frequency: 3.375869286341233e-5
allele num: 118488
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.587G>A
  hgvsp: ENSP00000411822.1:p.Arg196Gln
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+682G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.653G>A
  hgvsp: ENSP00000273541.8:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.591G>A
  hgvsp: ENST00000393292.3:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3514G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.587G>A
  hgvsp: ENSP00000376973.3:p.Arg196Gln
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg196Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

3-128852994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852994
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852994
    reference: chr 3
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*333C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.652C>T
  hgvsp: ENSP00000273541.8:p.Arg218Trp
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.586C>T
  hgvsp: ENSP00000411822.1:p.Arg196Trp
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3515C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.590C>T
  hgvsp: ENSP00000376970.3:p.Ser197Leu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.586C>T
  hgvsp: ENSP00000376973.3:p.Arg196Trp
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+681C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg196Trp
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-128852997-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128852997
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128852997
    reference: chr 3
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.583G>T
  hgvsp: ENSP00000376973.3:p.Ala195Ser
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3518G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.583G>T
  hgvsp: ENSP00000411822.1:p.Ala195Ser
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.587G>T
  hgvsp: ENSP00000376970.3:p.Gly196Val
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*330G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.649G>T
  hgvsp: ENSP00000273541.8:p.Ala217Ser
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+678G>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43666
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala195Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

3-128853002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853002
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853002
    reference: chr 3
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.644G>A
  hgvsp: ENSP00000273541.8:p.Arg215Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.578G>A
  hgvsp: ENSP00000376973.3:p.Arg193Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.582G>A
  hgvsp: ENST00000393292.3:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.578G>A
  hgvsp: ENSP00000411822.1:p.Arg193Lys
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*325G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3523G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+673G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43670
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg193Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

3-128853028-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853028
    reference: chr 3
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.556G>C
  hgvsp: ENSP00000376970.3:p.Val186Leu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3549G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*299G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.552G>C
  hgvsp: ENSP00000376973.3:p.Glu184Asp
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.552G>C
  hgvsp: ENSP00000411822.1:p.Glu184Asp
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.618G>C
  hgvsp: ENSP00000273541.8:p.Glu206Asp
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+647G>C
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43670
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu184Asp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-128853030-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853030
    reference: chr 3
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.550G>C
  hgvsp: ENSP00000411822.1:p.Glu184Gln
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*297G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.616G>C
  hgvsp: ENSP00000273541.8:p.Glu206Gln
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+645G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.550G>C
  hgvsp: ENSP00000376973.3:p.Glu184Gln
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.554G>C
  hgvsp: ENSP00000376970.3:p.Arg185Pro
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3551G>C
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43670
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu184Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

3-128853030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853030
    reference: chr 3
allele count: 2
allele frequency: 1.656314699792961e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+645G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*297G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.550G>A
  hgvsp: ENSP00000411822.1:p.Glu184Lys
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.554G>A
  hgvsp: ENSP00000376970.3:p.Arg185Gln
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.550G>A
  hgvsp: ENSP00000376973.3:p.Glu184Lys
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3551G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.616G>A
  hgvsp: ENSP00000273541.8:p.Glu206Lys
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43670
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu184Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

3-128853031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853031
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853031
    reference: chr 3
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+644C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.549C>T
  hgvsp: ENST00000393295.3:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.549C>T
  hgvsp: ENST00000418265.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*296C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.553C>T
  hgvsp: ENSP00000376970.3:p.Arg185Ter
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3552C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.615C>T
  hgvsp: ENST00000273541.8:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg185Ter
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-128853051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853051
    reference: chr 3
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.542-13C>T
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+624C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*289-13C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3572C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.608-13C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.542-13C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.546-13C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

3-128853062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853062
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853062
    reference: chr 3
allele count: 232
allele frequency: 1.923268229598435e-3
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.542-24G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.542-24G>A
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*289-24G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.608-24G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+613G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3583G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.546-24G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 9.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

3-128853069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853069
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853069
    reference: chr 3
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+606A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3590A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*289-31A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.542-31A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.546-31A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.608-31A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.542-31A>G
  variant of: http://identifiers.org/hgnc/42969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

3-128853070-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853070
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853070
    reference: chr 3
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+605A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*289-32A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3591A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.608-32A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.542-32A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.546-32A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.542-32A>G
  variant of: http://identifiers.org/hgnc/42969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43701
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-128853073-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853073
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853073
    reference: chr 3
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.542-35A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*289-35A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+602A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.608-35A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-3594A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.546-35A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.542-35A>G
  variant of: http://identifiers.org/hgnc/42969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-128853088-T-TCAACACTATGCAGGGAAAGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853088
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853109
    reference: chr 3
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: TCAACACTATGCAGGGAAAGGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

3-128853088-TCAACACTATGCAGGGAAAGGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853088
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853067
    reference: chr 3
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: TCAACACTATGCAGGGAAAGGC
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-128853622-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853622
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853622
    reference: chr 3
allele count: 114020
allele frequency: 9.497867519658804e-1
allele num: 120048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+49G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4143G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+53G>C
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+53G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+53G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+53G>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+53G>C
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 2180
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 3.25e1
  variant carriers: 2836
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.25e1
  variant carriers: 1999
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 5.75e1
  variant carriers: 5343
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 6.75e1
  variant carriers: 4464
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 3.75e1
  variant carriers: 3736
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.75e1
  variant carriers: 2073
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 8.75e1
  variant carriers: 1517
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.25e1
  variant carriers: 4477
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 6.25e1
  variant carriers: 5145
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.25e1
  variant carriers: 1355
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 9.25e1
  variant carriers: 1085
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 9.75e1
  variant carriers: 4564
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 7.75e1
  variant carriers: 2886
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 2180
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 4.75e1
  variant carriers: 4920
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 5.25e1
  variant carriers: 5277
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 7.25e1
  variant carriers: 3657
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 564
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.75e1
  variant carriers: 794
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 406
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 326
genotype quality: GenotypeQuality
  all individuals: 51771
  bin: 9.75e1
  variant carriers: 51618
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 9.25e1
  variant carriers: 967
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 443
num of homozygotes: 54337
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/3-128853624-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853624
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853624
    reference: chr 3
allele count: 1
allele frequency: 8.340144451301897e-6
allele num: 119902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+51G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+51G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+51G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+47G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4145G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+51G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+51G>T
  variant of: http://identifiers.org/hgnc/42969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-128853624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853624
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853624
    reference: chr 3
allele count: 1
allele frequency: 8.340144451301897e-6
allele num: 119902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+47G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+51G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+51G>A
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+51G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+51G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4145G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+51G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

3-128853629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853629
    reference: chr 3
allele count: 1
allele frequency: 8.327365388138501e-6
allele num: 120086
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+46C>T
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+46C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+46C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4150C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+46C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+42C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+46C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23922
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-128853634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853634
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853634
    reference: chr 3
allele count: 2
allele frequency: 1.666111296234588e-5
allele num: 120040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+41G>A
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4155G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+41G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+41G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+37G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+41G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+41G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23919
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

3-128853643-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853643
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853643
    reference: chr 3
allele count: 2
allele frequency: 1.663810458712543e-5
allele num: 120206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+28A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+32A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4164A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+32A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+32A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+32A>T
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+32A>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23910
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
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: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

3-128853649-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853649
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853649
    reference: chr 3
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+26T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+26T>C
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+22T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+26T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4170T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+26T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+26T>C
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-128853650-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853650
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853650
    reference: chr 3
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4171A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+25A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+25A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+25A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+25A>T
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+21A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+25A>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

3-128853660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853660
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853660
    reference: chr 3
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+15A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+11A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4181A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+15A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+15A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+15A>G
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+15A>G
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

3-128853661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853661
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853661
    reference: chr 3
allele count: 158
allele frequency: 1.312030824420381e-3
allele num: 120424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+14C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+14C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4182C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+14C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+10C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+14C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+14C>T
  variant of: http://identifiers.org/hgnc/42969
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10454
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9594
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4422
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-128853664-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853664
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853664
    reference: chr 3
allele count: 1
allele frequency: 8.299168423323983e-6
allele num: 120494
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+11G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+11G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+7G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+11G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+11G>A
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+11G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4185G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
hgvs: c.545+7G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-128853665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853665
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853665
    reference: chr 3
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288+10T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607+10T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541+10T>C
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.545+6T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541+10T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355+10T>C
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4186T>C
  variant of: http://identifiers.org/hgnc/29201
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: c.545+6T>C
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

3-128853675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853675
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853675
    reference: chr 3
allele count: 4
allele frequency: 3.314990386527879e-5
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.607C>T
  hgvsp: ENSP00000273541.8:p.Leu203Phe
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.541C>T
  hgvsp: ENSP00000411822.1:p.Leu181Phe
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4196C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.355C>T
  hgvsp: ENSP00000426416.1:p.Leu119Phe
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*288C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.541C>T
  hgvsp: ENSP00000376973.3:p.Leu181Phe
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.541C>T
  hgvsp: ENSP00000376970.3:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu181Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-128853679-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853679
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853679
    reference: chr 3
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4200G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.603G>T
  hgvsp: ENSP00000273541.8:p.Lys201Asn
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.537G>T
  hgvsp: ENSP00000411822.1:p.Lys179Asn
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*284G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.537G>T
  hgvsp: ENSP00000376973.3:p.Lys179Asn
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.351G>T
  hgvsp: ENSP00000426416.1:p.Lys117Asn
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.537G>T
  hgvsp: ENSP00000376970.3:p.Lys179Asn
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys179Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

3-128853689-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853689
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853689
    reference: chr 3
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*274A>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.593A>G
  hgvsp: ENSP00000273541.8:p.Glu198Gly
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.527A>G
  hgvsp: ENSP00000376973.3:p.Glu176Gly
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.527A>G
  hgvsp: ENSP00000376970.3:p.Glu176Gly
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.341A>G
  hgvsp: ENSP00000426416.1:p.Glu114Gly
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.527A>G
  hgvsp: ENSP00000411822.1:p.Glu176Gly
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4210A>G
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu176Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-128853701-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853701
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853701
    reference: chr 3
allele count: 2
allele frequency: 1.656369569178275e-5
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*262C>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.581C>G
  hgvsp: ENSP00000273541.8:p.Pro194Arg
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.515C>G
  hgvsp: ENSP00000376973.3:p.Pro172Arg
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.515C>G
  hgvsp: ENSP00000411822.1:p.Pro172Arg
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.329C>G
  hgvsp: ENSP00000426416.1:p.Pro110Arg
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.515C>G
  hgvsp: ENSP00000376970.3:p.Pro172Arg
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4222C>G
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23844
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro172Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

3-128853705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853705
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853705
    reference: chr 3
allele count: 6
allele frequency: 4.969108707534825e-5
allele num: 120746
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.511G>A
  hgvsp: ENSP00000411822.1:p.Val171Met
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.577G>A
  hgvsp: ENSP00000273541.8:p.Val193Met
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.511G>A
  hgvsp: ENSP00000376970.3:p.Val171Met
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.325G>A
  hgvsp: ENSP00000426416.1:p.Val109Met
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.511G>A
  hgvsp: ENSP00000376973.3:p.Val171Met
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4226G>A
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*258G>A
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23844
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val171Met
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-128853717-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853717
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853717
    reference: chr 3
allele count: 2
allele frequency: 1.656314699792961e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.313G>T
  hgvsp: ENSP00000426416.1:p.Asp105Tyr
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*246G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.565G>T
  hgvsp: ENSP00000273541.8:p.Asp189Tyr
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4238G>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.499G>T
  hgvsp: ENSP00000376973.3:p.Asp167Tyr
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.499G>T
  hgvsp: ENSP00000376970.3:p.Asp167Tyr
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.499G>T
  hgvsp: ENSP00000411822.1:p.Asp167Tyr
  variant of: http://identifiers.org/hgnc/42969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp167Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-128853729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853729
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853729
    reference: chr 3
allele count: 4
allele frequency: 3.312464805061446e-5
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.487C>T
  hgvsp: ENST00000393295.3:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.301C>T
  hgvsp: ENST00000496163.1:c.301C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.487C>T
  hgvsp: ENST00000393292.3:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.553C>T
  hgvsp: ENST00000273541.8:c.553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.487C>T
  hgvsp: ENST00000418265.1:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*234C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4250C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu163Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

3-128853731-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853731
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853731
    reference: chr 3
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4252A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*232A>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.551A>T
  hgvsp: ENSP00000273541.8:p.Tyr184Phe
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.299A>T
  hgvsp: ENSP00000426416.1:p.Tyr100Phe
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.485A>T
  hgvsp: ENSP00000376973.3:p.Tyr162Phe
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.485A>T
  hgvsp: ENSP00000376970.3:p.Tyr162Phe
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.485A>T
  hgvsp: ENSP00000411822.1:p.Tyr162Phe
  variant of: http://identifiers.org/hgnc/42969
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23837
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13601
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr162Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-128853748-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853748
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853748
    reference: chr 3
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.468T>G
  hgvsp: ENSP00000411822.1:p.Asp156Glu
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.468T>G
  hgvsp: ENSP00000376973.3:p.Asp156Glu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.468T>G
  hgvsp: ENSP00000376970.3:p.Asp156Glu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*215T>G
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.534T>G
  hgvsp: ENSP00000273541.8:p.Asp178Glu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.282T>G
  hgvsp: ENSP00000426416.1:p.Asp94Glu
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4269T>G
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp156Glu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

3-128853751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128853751
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 128853751
    reference: chr 3
allele count: 78
allele frequency: 6.459413352766782e-4
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376970
  ensembl transcript: ENST00000393292
  gene symbol: ISY1
  hgvsc: ENST00000393292.3:c.465C>T
  hgvsp: ENST00000393292.3:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000422403
  ensembl transcript: ENST00000485703
  gene symbol: ISY1
  hgvsc: ENST00000485703.1:c.*212C>T
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000273541
  ensembl transcript: ENST00000273541
  gene symbol: ISY1
  hgvsc: ENST00000273541.8:c.531C>T
  hgvsp: ENST00000273541.8:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000261796
  ensembl protein: ENSP00000411822
  ensembl transcript: ENST00000418265
  gene symbol: ISY1-RAB43
  hgvsc: ENST00000418265.1:c.465C>T
  hgvsp: ENST00000418265.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/42969
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000426416
  ensembl transcript: ENST00000496163
  gene symbol: ISY1
  hgvsc: ENST00000496163.1:c.279C>T
  hgvsp: ENST00000496163.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000240682
  ensembl protein: ENSP00000376973
  ensembl transcript: ENST00000393295
  gene symbol: ISY1
  hgvsc: ENST00000393295.3:c.465C>T
  hgvsp: ENST00000393295.3:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29201
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240682
  ensembl transcript: ENST00000471497
  gene symbol: ISY1
  hgvsc: ENST00000471497.1:n.310-4272C>T
  variant of: http://identifiers.org/hgnc/29201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile155Ile
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 7456
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5025
bin: 9.75e1
variant carriers: 2

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.740845e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 6.904e0

QD
type: SiteQuality
SIO_000300: 1.047e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.996311512279965e-5
allele num: 66694
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 1.741397e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.284e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
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: 6612
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.741194e6

VQSLOD
type: SiteQuality
SIO_000300: 2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

FS
type: SiteQuality
SIO_000300: 2.664e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.081e0

QD
type: SiteQuality
SIO_000300: 9.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 3
allele frequency: 4.498155756139982e-5
allele num: 66694
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

QD
type: SiteQuality
SIO_000300: 6.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.741336e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.59e0

DP
type: SiteQuality
SIO_000300: 1.741336e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 653
bin: 8.75e1
variant carriers: 0

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

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

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

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

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.039e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.741214e6

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

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

FS
type: SiteQuality
SIO_000300: 8.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 2.25e1
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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bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.008e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.055363321799307e-4
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

African
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num of homozygotes: 0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.736416e6

FS
type: SiteQuality
SIO_000300: 1.802e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-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
all individuals: 2751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5016
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
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: 9788
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

VQSLOD
type: SiteQuality
SIO_000300: -2.248e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

QD
type: SiteQuality
SIO_000300: 1.121e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.269e0

FS
type: SiteQuality
SIO_000300: 1.5518e1

DP
type: SiteQuality
SIO_000300: 1.735804e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.495688650664181e-4
allele num: 8582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 3.134e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

DP
type: SiteQuality
SIO_000300: 1.725573e6

QD
type: SiteQuality
SIO_000300: 1.342e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.827e0

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

GenotypeQuality
all individuals: 945
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2728
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variant carriers: 0

GenotypeQuality
all individuals: 7145
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516711833785005e-5
allele num: 66420
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.827485380116959e-4
allele num: 16416
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.499766682221185e-4
allele num: 8572
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

DP
type: SiteQuality
SIO_000300: 1.720673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.415e1

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 637
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variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030945958233565e-5
allele num: 65986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 1.637536e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.522e0

GenotypeQuality
all individuals: 71
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
all individuals: 2616
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GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 877
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6253
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GenotypeQuality
all individuals: 640
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517082347229808e-5
allele num: 65916
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.409e0

VQSLOD
type: SiteQuality
SIO_000300: -3.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.071e0

DP
type: SiteQuality
SIO_000300: 1.623572e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 4641
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5791
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variant carriers: 0

GenotypeQuality
all individuals: 2488
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variant carriers: 0

GenotypeQuality
all individuals: 877
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variant carriers: 0

GenotypeQuality
all individuals: 2577
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variant carriers: 0

GenotypeQuality
all individuals: 638
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variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 1.568e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.596435e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 2587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5279
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variant carriers: 0

GenotypeQuality
all individuals: 879
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variant carriers: 0

GenotypeQuality
all individuals: 5011
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2144
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GenotypeQuality
all individuals: 638
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variant carriers: 0

GenotypeQuality
all individuals: 5761
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variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523507724184162e-5
allele num: 65638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.947e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.896e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.029e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.594479e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
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variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 6.957328385899814e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 1.982e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.63e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.98e-1

DP
type: SiteQuality
SIO_000300: 3.203191e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
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variant carriers: 0

GenotypeQuality
all individuals: 2070
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variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.460327223520728e-4
allele num: 16258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.204259e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.23e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.233e1

FS
type: SiteQuality
SIO_000300: 4.128e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.364e0

MQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

GenotypeQuality
all individuals: 90
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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: 1311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 42940
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.499e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 3.204941e6

QD
type: SiteQuality
SIO_000300: 1.107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 8.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1941
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GenotypeQuality
all individuals: 2289
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variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.109e0

FS
type: SiteQuality
SIO_000300: 1.364e0

DP
type: SiteQuality
SIO_000300: 3.209924e6

QD
type: SiteQuality
SIO_000300: 1.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.22e-1

GenotypeQuality
all individuals: 1944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1339
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.507421150278293e-3
allele num: 8624
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 3.215493e6

GenotypeQuality
all individuals: 5024
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 240
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42950
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.223540927444023e-4
allele num: 16346
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

DP
type: SiteQuality
SIO_000300: 3.220343e6

MQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 2.924e0

MQ
type: SiteQuality
SIO_000300: 6.096e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

GenotypeQuality
all individuals: 185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.224505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.08e-1

FS
type: SiteQuality
SIO_000300: 3.011e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.22e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

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

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

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.795e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.011e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 3.232567e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.003e0

QD
type: SiteQuality
SIO_000300: 1.164e1

MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 42956
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.02571860816944e-4
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.182e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
SIO_000300: 3.233759e6

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 2310
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variant carriers: 0

GenotypeQuality
all individuals: 1544
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 42980
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 5938
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variant carriers: 0

GenotypeQuality
all individuals: 1388
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.234636e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

FS
type: SiteQuality
SIO_000300: 1.415e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.89e0

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
all individuals: 5929
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42971
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variant carriers: 5

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1392
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

MQ
type: SiteQuality
SIO_000300: 5.143e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.82e-1

QD
type: SiteQuality
SIO_000300: 5.14e0

FS
type: SiteQuality
SIO_000300: 5.019e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.569e0

DP
type: SiteQuality
SIO_000300: 3.234593e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1936
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GenotypeQuality
all individuals: 42
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2306
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variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -9.016e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 9.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.018e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.985e1

DP
type: SiteQuality
SIO_000300: 3.233585e6

MQ
type: SiteQuality
SIO_000300: 5.214e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 1939
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6020
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GenotypeQuality
all individuals: 1838
bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.726e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.234045e6

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 2238
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GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 42983
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 8.25e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.718e1

QD
type: SiteQuality
SIO_000300: 1.509e1

VQSLOD
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SIO_000300: -1.545e0

DP
type: SiteQuality
SIO_000300: 3.235071e6

ReadPosRankSum
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SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.042e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -5.043e0

ClippingRankSum
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SIO_000300: 2.03e0

InbreedingCoeff
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MQ
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SIO_000300: 5.98e1

MQRankSum
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SIO_000300: 8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.3653e1

QD
type: SiteQuality
SIO_000300: 1.421e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

ClippingRankSum
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SIO_000300: 1.22e0

MQRankSum
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SIO_000300: 4.4e-2

BaseQRankSum
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SIO_000300: -4.163e0

QD
type: SiteQuality
SIO_000300: 1.381e1

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.345e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.352e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

DP
type: SiteQuality
SIO_000300: 3.236201e6

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.327e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 3.236199e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

QD
type: SiteQuality
SIO_000300: 1.589e1

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: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.048687540014024e-5
allele num: 65602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 10
allele frequency: 1.164415463437354e-3
allele num: 8588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.21e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -9.821999999999999e0

DP
type: SiteQuality
SIO_000300: 3.296955e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

BaseQRankSum
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SIO_000300: -3.201e0

QD
type: SiteQuality
SIO_000300: 1.173e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-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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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.097375080028048e-5
allele num: 65602
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.61e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.387e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8626
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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MQ
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.295722e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 1.202e0

VQSLOD
type: SiteQuality
SIO_000300: -4.838e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.559e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.59e-1

QD
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.826e0

GenotypeQuality
all individuals: 2111
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1882
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.296096e6

QD
type: SiteQuality
SIO_000300: 1.444e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 2.448e0

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.444e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 3.296096e6

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 2.448e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
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GenotypeQuality
all individuals: 2111
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 1882
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variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.432e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

FS
type: SiteQuality
SIO_000300: 3.442e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

DP
type: SiteQuality
SIO_000300: 3.295935e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 43669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1481
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 1882
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variant carriers: 0

GenotypeQuality
all individuals: 2077
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.792e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 3.293537e6

FS
type: SiteQuality
SIO_000300: 7.273e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.467e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

QD
type: SiteQuality
SIO_000300: 9.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: -1.774e0

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5207
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variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 40
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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: 43730
bin: 9.75e1
variant carriers: 232

GenotypeQuality
all individuals: 2038
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 7.142857142857143e-4
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 201
allele frequency: 3.016025448652542e-3
allele num: 66644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.642987249544627e-4
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.036627505183138e-3
allele num: 11576
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.552e0

FS
type: SiteQuality
SIO_000300: 5.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

DP
type: SiteQuality
SIO_000300: 3.299472e6

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 4769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1873
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variant carriers: 0

GenotypeQuality
all individuals: 2264
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.348e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

DP
type: SiteQuality
SIO_000300: 3.288722e6

FS
type: SiteQuality
SIO_000300: 9.880000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

VQSLOD
type: SiteQuality
SIO_000300: -2.411e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

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

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

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

GenotypeQuality
all individuals: 1997
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
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: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 3.288014e6

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 1.893e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.551e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1298
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variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.511e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: 2.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 3.28557e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.456e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 462
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GenotypeQuality
all individuals: 605
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.332e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.49e0

QD
type: SiteQuality
SIO_000300: 2.61e0

FS
type: SiteQuality
SIO_000300: 7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.65e-1

DP
type: SiteQuality
SIO_000300: 3.277666e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.222e1

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 502
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GenotypeQuality
all individuals: 1732
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variant carriers: 0

GenotypeQuality
all individuals: 1807
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variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.25e1
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GenotypeQuality
all individuals: 1473
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.65e-1

FS
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.332e-1

DP
type: SiteQuality
SIO_000300: 3.277666e6

QD
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.222e1

MQRankSum
type: SiteQuality
SIO_000300: -5.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 15

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 119

GenotypeQuality
all individuals: 766
bin: 6.75e1
variant carriers: 740

GenotypeQuality
all individuals: 730
bin: 4.75e1
variant carriers: 727

GenotypeQuality
all individuals: 794
bin: 6.25e1
variant carriers: 743

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 866
bin: 8.25e1
variant carriers: 844

GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 395

GenotypeQuality
all individuals: 759
bin: 5.25e1
variant carriers: 755

GenotypeQuality
all individuals: 369
bin: 3.25e1
variant carriers: 367

European (Finnish)
type: Population
allele count: 6421
allele frequency: 9.708194738433625e-1
allele num: 6614
num of homozygotes: 3116

European (Non-Finnish)
type: Population
allele count: 64674
allele frequency: 9.73155978211803e-1
allele num: 66458
num of homozygotes: 31484

Other
type: Population
allele count: 849
allele frequency: 9.517937219730942e-1
allele num: 892
num of homozygotes: 405

East Asian
type: Population
allele count: 8581
allele frequency: 9.959377901578459e-1
allele num: 8616
num of homozygotes: 4273

African
type: Population
allele count: 7886
allele frequency: 8.051868490912804e-1
allele num: 9794
num of homozygotes: 3199

Latino
type: Population
allele count: 10335
allele frequency: 8.932584269662921e-1
allele num: 11570
num of homozygotes: 4616

South Asian
type: Population
allele count: 15274
allele frequency: 9.484600099354198e-1
allele num: 16104
num of homozygotes: 7244

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

QD
type: SiteQuality
SIO_000300: 3.297e1

FS
type: SiteQuality
SIO_000300: 1.772e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

DP
type: SiteQuality
SIO_000300: 3.490101e6

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2665
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15986
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.399954e6

FS
type: SiteQuality
SIO_000300: 4.91e0

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9589
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3910
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 643
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.255473539346929e-5
allele num: 15986
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.91e0

DP
type: SiteQuality
SIO_000300: 2.399954e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeQuality
all individuals: 532
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3906
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4242
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.402542e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.306e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 1.757e1

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4422
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009328919650918e-5
allele num: 66460
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: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.138e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

DP
type: SiteQuality
SIO_000300: 2.405744e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.01e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.157e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
SIO_000300: 8.92e0

VQSLOD
type: SiteQuality
SIO_000300: -4.682e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

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

GenotypeQuality
all individuals: 4253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11954
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3915
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 2.116e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.169e1

DP
type: SiteQuality
SIO_000300: 2.413629e6

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

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

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 23908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3917
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.594e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

DP
type: SiteQuality
SIO_000300: 2.418051e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5151
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.41869e6

VQSLOD
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.906e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.505e0

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
SIO_000300: 2.424809e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 3.495e0

QD
type: SiteQuality
SIO_000300: 1.192e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23933
bin: 9.75e1
variant carriers: 157

GenotypeQuality
all individuals: 4244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 150
allele frequency: 1.530612244897959e-2
allele num: 9800
num of homozygotes: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.046993780234969e-4
allele num: 11576
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.8e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.167e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

DP
type: SiteQuality
SIO_000300: 2.430466e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

GenotypeQuality
all individuals: 13181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23846
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.343e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 2.617e0

DP
type: SiteQuality
SIO_000300: 2.424929e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.21e-1

QD
type: SiteQuality
SIO_000300: 1.559e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.501e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13273
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.012e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.136e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.11e-1

DP
type: SiteQuality
SIO_000300: 2.425374e6

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

GenotypeQuality
all individuals: 13508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23846
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

FS
type: SiteQuality
SIO_000300: 5.914e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.428508e6

QD
type: SiteQuality
SIO_000300: 1.393e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23844
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

QD
type: SiteQuality
SIO_000300: 1.334e1

FS
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.461e0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 2.428828e6

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 13571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3921
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 6.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 2.429242e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.581e1

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 13594
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4258
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.091e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 2.42959e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

FS
type: SiteQuality
SIO_000300: 2.786e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5278
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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: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
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: 5
allele frequency: 7.494004796163069e-5
allele num: 66720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.262e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

QD
type: SiteQuality
SIO_000300: 1.184e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.515e0

DP
type: SiteQuality
SIO_000300: 2.429883e6

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.208e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.21e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

FS
type: SiteQuality
SIO_000300: 2.483e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.014e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 2.429566e6

QD
type: SiteQuality
SIO_000300: 1.29e1

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

GenotypeQuality
all individuals: 46
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 4259
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.376e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.667e0

DP
type: SiteQuality
SIO_000300: 2.429707e6

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

GenotypeQuality
all individuals: 3923
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2698
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2327
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.373e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

DP
type: SiteQuality
SIO_000300: 2.429491e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.659e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

QD
type: SiteQuality
SIO_000300: 1.022e1

GenotypeQuality
all individuals: 4443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13600
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23836
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.408e0

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 2.429308e6

QD
type: SiteQuality
SIO_000300: 1.456e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.61e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: -2.189e-1