http://identifiers.org/exac.variant/2-128262978-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128262978
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128262978
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.422T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.516T>G
  hgvsp: ENSP00000387206.1:p.Ser172Arg
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.472T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-179A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.522T>G
  hgvsp: ENSP00000399245.2:p.Ser174Arg
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.659T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.501T>G
  hgvsp: ENSP00000295321.4:p.Ser167Arg
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.407T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.574T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.546T>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser167Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-128262979-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128262979
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128262979
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.421G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-178C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.515G>T
  hgvsp: ENSP00000387206.1:p.Ser172Ile
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.658G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.573G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.500G>T
  hgvsp: ENSP00000295321.4:p.Ser167Ile
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.521G>T
  hgvsp: ENSP00000399245.2:p.Ser174Ile
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.471G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.406G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.545G>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25524
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser167Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-128262995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128262995
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128262995
    reference: chr 2
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.455G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.557G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.505G>A
  hgvsp: ENSP00000399245.2:p.Glu169Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.499G>A
  hgvsp: ENSP00000387206.1:p.Glu167Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.405G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.642G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-162C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.529G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.484G>A
  hgvsp: ENSP00000295321.4:p.Glu162Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.390G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu162Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

2-128263002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263002
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263002
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.477T>C
  hgvsp: ENST00000295321.4:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-155A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.522T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.498T>C
  hgvsp: ENST00000455721.2:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.398T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.383T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.448T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.492T>C
  hgvsp: ENST00000409725.1:c.492T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.550T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.635T>C
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser159Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-128263013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263013
    reference: chr 2
allele count: 4
allele frequency: 3.296196189597204e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.539G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-144C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.487G>A
  hgvsp: ENSP00000399245.2:p.Ala163Thr
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.481G>A
  hgvsp: ENSP00000387206.1:p.Ala161Thr
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.372G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.437G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.387G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.511G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.624G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.466G>A
  hgvsp: ENSP00000295321.4:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11277
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala156Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-128263014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263014
    reference: chr 2
allele count: 23
allele frequency: 1.895156638816104e-4
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.538C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.510C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.386C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.371C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.480C>T
  hgvsp: ENST00000409725.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-143G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.623C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.465C>T
  hgvsp: ENST00000295321.4:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.486C>T
  hgvsp: ENST00000455721.2:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.436C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro155Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-128263016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263016
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.484C>T
  hgvsp: ENSP00000399245.2:p.Pro162Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.478C>T
  hgvsp: ENSP00000387206.1:p.Pro160Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-141G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.463C>T
  hgvsp: ENSP00000295321.4:p.Pro155Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.508C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.536C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.434C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.384C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.369C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.621C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro155Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-128263029-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263029
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.471T>C
  hgvsp: ENST00000455721.2:c.471T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.421T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.371T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.356T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.450T>C
  hgvsp: ENST00000295321.4:c.450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.495T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.608T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.465T>C
  hgvsp: ENST00000409725.1:c.465T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.523T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-128A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp150Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-128263034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263034
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263034
    reference: chr 2
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.460G>A
  hgvsp: ENSP00000387206.1:p.Glu154Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-123C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.366G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.445G>A
  hgvsp: ENSP00000295321.4:p.Glu149Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.490G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.416G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.518G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.351G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.466G>A
  hgvsp: ENSP00000399245.2:p.Glu156Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.603G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6434
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu149Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

2-128263035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263035
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263035
    reference: chr 2
allele count: 103
allele frequency: 8.486726101214508e-4
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.444C>T
  hgvsp: ENST00000295321.4:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.415C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.489C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.517C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.465C>T
  hgvsp: ENST00000455721.2:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-122G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.459C>T
  hgvsp: ENST00000409725.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.350C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.365C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.602C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 9.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn148Asn
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-128263035-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263035
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263035
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.444C>G
  hgvsp: ENSP00000295321.4:p.Asn148Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.465C>G
  hgvsp: ENSP00000399245.2:p.Asn155Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-122G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.602C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.350C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.459C>G
  hgvsp: ENSP00000387206.1:p.Asn153Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.415C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.517C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.489C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.365C>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn148Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-128263043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263043
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263043
    reference: chr 2
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.342T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.436T>C
  hgvsp: ENSP00000295321.4:p.Ser146Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.457T>C
  hgvsp: ENSP00000399245.2:p.Ser153Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.407T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.451T>C
  hgvsp: ENSP00000387206.1:p.Ser151Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.357T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-114A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.509T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.594T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.481T>C
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser146Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-128263044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263044
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263044
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.593C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.435C>T
  hgvsp: ENST00000295321.4:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.456C>T
  hgvsp: ENST00000455721.2:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.450C>T
  hgvsp: ENST00000409725.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.341C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-113G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.406C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.480C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.356C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.508C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp145Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

2-128263049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263049
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263049
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.451A>G
  hgvsp: ENSP00000399245.2:p.Ser151Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.351A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.336A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.588A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.475A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.503A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.445A>G
  hgvsp: ENSP00000387206.1:p.Ser149Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.401A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.430A>G
  hgvsp: ENSP00000295321.4:p.Ser144Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-108T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser144Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-128263051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263051
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263051
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.428C>T
  hgvsp: ENSP00000295321.4:p.Ala143Val
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.473C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.501C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.399C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.449C>T
  hgvsp: ENSP00000399245.2:p.Ala150Val
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.586C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.349C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.443C>T
  hgvsp: ENSP00000387206.1:p.Ala148Val
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-106G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.334C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala143Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-128263057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263057
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263057
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.495G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.343G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.467G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.328G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.580G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.437G>A
  hgvsp: ENSP00000387206.1:p.Gly146Glu
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.443G>A
  hgvsp: ENSP00000399245.2:p.Gly148Glu
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-100C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.422G>A
  hgvsp: ENSP00000295321.4:p.Gly141Glu
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.393G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly141Glu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-128263059-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263059
    reference: chr 2
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.391T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.326T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.465T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.435T>C
  hgvsp: ENST00000409725.1:c.435T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.420T>C
  hgvsp: ENST00000295321.4:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.578T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.441T>C
  hgvsp: ENST00000455721.2:c.441T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.341T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.493T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-98A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6335
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn140Asn
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-128263071-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263071
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263071
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.429G>T
  hgvsp: ENSP00000399245.2:p.Glu143Asp
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.481G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.453G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.314G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.566G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-86C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.423G>T
  hgvsp: ENSP00000387206.1:p.Glu141Asp
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.408G>T
  hgvsp: ENSP00000295321.4:p.Glu136Asp
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.379G>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.329G>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu136Asp
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

2-128263081-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263081
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.471C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.413C>G
  hgvsp: ENSP00000387206.1:p.Ser138Cys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.419C>G
  hgvsp: ENSP00000399245.2:p.Ser140Cys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.369C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.398C>G
  hgvsp: ENSP00000295321.4:p.Ser133Cys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.556C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-76G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.304C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.319C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.443C>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser133Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-128263082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263082
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.418T>C
  hgvsp: ENSP00000399245.2:p.Ser140Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.442T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.303T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.470T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.397T>C
  hgvsp: ENSP00000295321.4:p.Ser133Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.555T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.368T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-75A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.318T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.412T>C
  hgvsp: ENSP00000387206.1:p.Ser138Pro
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser133Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-128263088-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263088
    reference: chr 2
allele count: 5
allele frequency: 4.119702063146793e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.412A>G
  hgvsp: ENSP00000399245.2:p.Ser138Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.406A>G
  hgvsp: ENSP00000387206.1:p.Ser136Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.436A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.362A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.464A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.391A>G
  hgvsp: ENSP00000295321.4:p.Ser131Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.549A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-69T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.297A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.312A>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser131Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-128263091-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263091
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263091
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-66C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.461G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.309G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.388G>A
  hgvsp: ENSP00000295321.4:p.Gly130Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.403G>A
  hgvsp: ENSP00000387206.1:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.433G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.409G>A
  hgvsp: ENSP00000399245.2:p.Gly137Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.359G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.294G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.546G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly130Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-128263092-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263092
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263092
    reference: chr 2
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.308T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.358T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.432T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.402T>G
  hgvsp: ENST00000409725.1:c.402T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.408T>G
  hgvsp: ENST00000455721.2:c.408T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.387T>G
  hgvsp: ENST00000295321.4:c.387T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.545T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.293T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.460T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-65A>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro129Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

2-128263092-AGGTAATTTCCTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263092
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263080
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsp: ENSP00000295321.4:p.Arg126_Pro129del
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsp: ENSP00000387206.1:p.Arg131_Pro134del
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsp: ENSP00000399245.2:p.Arg133_Pro136del
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg126_Pro129del
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: AGGTAATTTCCTG
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-128263098-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263098
    reference: chr 2
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.539A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.287A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.352A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.402A>G
  hgvsp: ENST00000455721.2:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.454A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.302A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.381A>G
  hgvsp: ENST00000295321.4:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-59T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.426A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.396A>G
  hgvsp: ENST00000409725.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys127Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

2-128263124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263124
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263124
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.513G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.261G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-33C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.276G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.326G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.370G>A
  hgvsp: ENSP00000387206.1:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.355G>A
  hgvsp: ENSP00000295321.4:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.376G>A
  hgvsp: ENSP00000399245.2:p.Asp126Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.400G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.428G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp119Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

2-128263125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263125
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263125
    reference: chr 2
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.512C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.354C>T
  hgvsp: ENST00000295321.4:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.260C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.325C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.375C>T
  hgvsp: ENST00000455721.2:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-32G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.369C>T
  hgvsp: ENST00000409725.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.275C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.427C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.399C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11252
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser118Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

2-128263126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263126
    reference: chr 2
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-31C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.511G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.259G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.274G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.368G>A
  hgvsp: ENSP00000387206.1:p.Ser123Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.398G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.324G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.426G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.374G>A
  hgvsp: ENSP00000399245.2:p.Ser125Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.353G>A
  hgvsp: ENSP00000295321.4:p.Ser118Asn
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11258
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser118Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-128263128-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263128
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263128
    reference: chr 2
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.322G>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.396G>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.372G>C
  hgvsp: ENST00000455721.2:c.372G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.424G>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-29C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.366G>C
  hgvsp: ENST00000409725.1:c.366G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.272G>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.351G>C
  hgvsp: ENST00000295321.4:c.351G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.257G>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.509G>C
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly117Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

2-128263138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263138
    reference: chr 2
allele count: 33
allele frequency: 2.718824149749539e-4
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.362A>G
  hgvsp: ENSP00000399245.2:p.Asn121Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.341A>G
  hgvsp: ENSP00000295321.4:p.Asn114Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.601A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.262A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.386A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.414A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.356A>G
  hgvsp: ENSP00000387206.1:p.Asn119Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.483-19T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.312A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.247A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.499A>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn114Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-128263159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263159
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263159
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.341A>G
  hgvsp: ENSP00000399245.2:p.Asp114Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.365A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.241A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.393A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.485T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.320A>G
  hgvsp: ENSP00000295321.4:p.Asp107Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.335A>G
  hgvsp: ENSP00000387206.1:p.Asp112Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.478A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.291A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.580A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.226A>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp107Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-128263159-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263159
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263159
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.320A>T
  hgvsp: ENSP00000295321.4:p.Asp107Val
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.341A>T
  hgvsp: ENSP00000399245.2:p.Asp114Val
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.291A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.485T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.580A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.335A>T
  hgvsp: ENSP00000387206.1:p.Asp112Val
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.226A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.478A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.365A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.241A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.393A>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp107Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-128263162-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263162
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263162
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.362G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.488C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.338G>A
  hgvsp: ENSP00000399245.2:p.Ser113Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.577G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.288G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.238G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.317G>A
  hgvsp: ENSP00000295321.4:p.Ser106Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.223G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.390G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.332G>A
  hgvsp: ENSP00000387206.1:p.Ser111Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.475G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser106Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-128263168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263168
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263168
    reference: chr 2
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.282C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.494G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.217C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.356C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.332C>T
  hgvsp: ENSP00000399245.2:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.311C>T
  hgvsp: ENSP00000295321.4:p.Pro104Leu
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.232C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.384C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.571C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.326C>T
  hgvsp: ENSP00000387206.1:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.469C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro104Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-128263179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263179
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263179
    reference: chr 2
allele count: 16
allele frequency: 1.318326384654681e-4
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.560T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.221T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.300T>C
  hgvsp: ENST00000295321.4:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.505A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.315T>C
  hgvsp: ENST00000409725.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.458T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.206T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.321T>C
  hgvsp: ENST00000455721.2:c.321T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.373T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.345T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.271T>C
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11244
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg100Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-128263180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263180
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263180
    reference: chr 2
allele count: 3
allele frequency: 2.471943441934048e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.299G>A
  hgvsp: ENSP00000295321.4:p.Arg100His
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.559G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.270G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.220G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.320G>A
  hgvsp: ENSP00000399245.2:p.Arg107His
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.205G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.314G>A
  hgvsp: ENSP00000387206.1:p.Arg105His
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.344G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.506C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.372G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.457G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg100His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-128263181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263181
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263181
    reference: chr 2
allele count: 25
allele frequency: 2.059918921591246e-4
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.269C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.319C>T
  hgvsp: ENSP00000399245.2:p.Arg107Cys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.204C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.343C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.558C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.298C>T
  hgvsp: ENSP00000295321.4:p.Arg100Cys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.313C>T
  hgvsp: ENSP00000387206.1:p.Arg105Cys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.371C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.456C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.219C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.507G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg100Cys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-128263181-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263181
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263181
    reference: chr 2
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.371C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.558C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.219C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.343C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.319C>G
  hgvsp: ENSP00000399245.2:p.Arg107Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.507G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.204C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.269C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.313C>G
  hgvsp: ENSP00000387206.1:p.Arg105Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.298C>G
  hgvsp: ENSP00000295321.4:p.Arg100Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.456C>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6281
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg100Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-128263190-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263190
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263190
    reference: chr 2
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.289T>A
  hgvsp: ENSP00000295321.4:p.Ser97Thr
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.310T>A
  hgvsp: ENSP00000399245.2:p.Ser104Thr
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.304T>A
  hgvsp: ENSP00000387206.1:p.Ser102Thr
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.516A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.195T>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.447T>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.334T>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.362T>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.260T>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.549T>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.210T>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser97Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

2-128263199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263199
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263199
    reference: chr 2
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.251G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.540G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.353G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.295G>A
  hgvsp: ENSP00000387206.1:p.Asp99Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.438G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.325G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.301G>A
  hgvsp: ENSP00000399245.2:p.Asp101Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.525C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.201G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.280G>A
  hgvsp: ENSP00000295321.4:p.Asp94Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.186G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp94Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

2-128263200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263200
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263200
    reference: chr 2
allele count: 6
allele frequency: 4.943886883868097e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.250C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.300C>T
  hgvsp: ENST00000455721.2:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.294C>T
  hgvsp: ENST00000409725.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.352C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.200C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.539C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.437C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.324C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.279C>T
  hgvsp: ENST00000295321.4:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.185C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.526G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser93Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-128263203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263203
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263203
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.297C>T
  hgvsp: ENST00000455721.2:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.529G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.197C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.276C>T
  hgvsp: ENST00000295321.4:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.349C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.247C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.291C>T
  hgvsp: ENST00000409725.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.536C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.182C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.434C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.321C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp92Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-128263204-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263204
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263204
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.296A>T
  hgvsp: ENSP00000399245.2:p.Asp99Val
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.320A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.535A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.246A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.348A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.275A>T
  hgvsp: ENSP00000295321.4:p.Asp92Val
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.433A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.290A>T
  hgvsp: ENSP00000387206.1:p.Asp97Val
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.530T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.181A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.196A>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp92Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-128263210-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263210
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.427A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.175A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.536T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.190A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.342A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.240A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.314A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.269A>G
  hgvsp: ENSP00000295321.4:p.Gln90Arg
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.284A>G
  hgvsp: ENSP00000387206.1:p.Gln95Arg
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.529A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.290A>G
  hgvsp: ENSP00000399245.2:p.Gln97Arg
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln90Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-128263222-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263222
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263222
    reference: chr 2
allele count: 117
allele frequency: 9.643122063792962e-4
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.178A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.228A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.278A>G
  hgvsp: ENSP00000399245.2:p.Glu93Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.257A>G
  hgvsp: ENSP00000295321.4:p.Glu86Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.415A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.548T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.330A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.517A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.302A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.272A>G
  hgvsp: ENSP00000387206.1:p.Glu91Gly
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.163A>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10065
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6275
  bin: 9.75e1
  variant carriers: 116
hgvs: p.Glu86Gly
num of homozygotes: 1
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

2-128263228-C-CTGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263228
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263231
    reference: chr 2
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: CTGA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.265_266insTCA
  hgvsp: ENSP00000387206.1:p.Glu88_Ser89insIle
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.250_251insTCA
  hgvsp: ENSP00000295321.4:p.Glu83_Ser84insIle
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.408_409insTCA
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.323_324insTCA
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.156_157insTCA
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.171_172insTCA
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.221_222insTCA
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.271_272insTCA
  hgvsp: ENSP00000399245.2:p.Glu90_Ser91insIle
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.555_556insGAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.510_511insTCA
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.295_296insTCA
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu83_Ser84insIle
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

2-128263232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263232
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263232
    reference: chr 2
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.153G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.292G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.558C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.247G>A
  hgvsp: ENSP00000295321.4:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.507G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.218G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.320G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.405G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.268G>A
  hgvsp: ENSP00000399245.2:p.Glu90Lys
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.168G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.262G>A
  hgvsp: ENSP00000387206.1:p.Glu88Lys
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu83Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-128263247-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263247
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263247
    reference: chr 2
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.305A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.232A>G
  hgvsp: ENSP00000295321.4:p.Asn78Asp
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.153A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.247A>G
  hgvsp: ENSP00000387206.1:p.Asn83Asp
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.138A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.203A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.492A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.390A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.573T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.253A>G
  hgvsp: ENSP00000399245.2:p.Asn85Asp
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.277A>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn78Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-128263249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263249
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263249
    reference: chr 2
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.245T>C
  hgvsp: ENSP00000387206.1:p.Leu82Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.230T>C
  hgvsp: ENSP00000295321.4:p.Leu77Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.490T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.388T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.136T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.575A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.151T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.201T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.275T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.251T>C
  hgvsp: ENSP00000399245.2:p.Leu84Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.303T>C
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu77Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-128263251-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263251
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263251
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.249T>C
  hgvsp: ENST00000455721.2:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.149T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.243T>C
  hgvsp: ENST00000409725.1:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.228T>C
  hgvsp: ENST00000295321.4:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.301T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.577A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.386T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.488T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.134T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.199T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.273T>C
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn76Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-128263265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263265
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263265
    reference: chr 2
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.120G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.135G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.214G>A
  hgvsp: ENSP00000295321.4:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.287G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.235G>A
  hgvsp: ENSP00000399245.2:p.Asp79Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.185G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.259G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.591C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.474G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.372G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.229G>A
  hgvsp: ENSP00000387206.1:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp72Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

2-128263266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263266
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263266
    reference: chr 2
allele count: 8
allele frequency: 6.620981891614527e-5
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.134C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.592G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.119C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.286C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.473C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.234C>T
  hgvsp: ENST00000455721.2:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.184C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.228C>T
  hgvsp: ENST00000409725.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.213C>T
  hgvsp: ENST00000295321.4:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.371C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.258C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn71Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-128263284-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263284
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263284
    reference: chr 2
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.210T>C
  hgvsp: ENST00000409725.1:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.610A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.240T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.216T>C
  hgvsp: ENST00000455721.2:c.216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.166T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.101T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.268T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.455T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.353T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.195T>C
  hgvsp: ENST00000295321.4:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.116T>C
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His65His
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-128263290-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263290
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263290
    reference: chr 2
allele count: 3
allele frequency: 2.502836548087833e-5
allele num: 119864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.110A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.160A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.234A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.210A>G
  hgvsp: ENST00000455721.2:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.449A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.95A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.189A>G
  hgvsp: ENST00000295321.4:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.204A>G
  hgvsp: ENST00000409725.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.347A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.616T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.262A>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly63Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-128263292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263292
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263292
    reference: chr 2
allele count: 1
allele frequency: 8.351846593281774e-6
allele num: 119734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.447G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.202G>A
  hgvsp: ENSP00000387206.1:p.Gly68Arg
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.93G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.158G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.232G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.187G>A
  hgvsp: ENSP00000295321.4:p.Gly63Arg
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.108G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.208G>A
  hgvsp: ENSP00000399245.2:p.Gly70Arg
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.618C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.345G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.260G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly63Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-128263300-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263300
    reference: chr 2
allele count: 2
allele frequency: 1.678049435336365e-5
allele num: 119186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.337T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.200T>C
  hgvsp: ENSP00000399245.2:p.Leu67Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.100T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.626A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.194T>C
  hgvsp: ENSP00000387206.1:p.Leu65Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.439T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.150T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.179T>C
  hgvsp: ENSP00000295321.4:p.Leu60Pro
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.85T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.252T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.224T>C
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23157
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu60Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-128263301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263301
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263301
    reference: chr 2
allele count: 1
allele frequency: 8.39630562552477e-6
allele num: 119100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.336C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.99C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.438C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.149C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.178C>T
  hgvsp: ENSP00000295321.4:p.Leu60Phe
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.627G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.193C>T
  hgvsp: ENSP00000387206.1:p.Leu65Phe
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.251C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.223C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.199C>T
  hgvsp: ENSP00000399245.2:p.Leu67Phe
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.84C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu60Phe
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-128263307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263307
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263307
    reference: chr 2
allele count: 1
allele frequency: 8.450085345861994e-6
allele num: 118342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.193G>A
  hgvsp: ENSP00000399245.2:p.Asp65Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.78G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.93G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.143G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.330G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.633C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.172G>A
  hgvsp: ENSP00000295321.4:p.Asp58Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.187G>A
  hgvsp: ENSP00000387206.1:p.Asp63Asn
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.432G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.245G>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.217G>A
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp58Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-128263308-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263308
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263308
    reference: chr 2
allele count: 1
allele frequency: 8.452513777597457e-6
allele num: 118308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.186A>G
  hgvsp: ENST00000409725.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.77A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.92A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.171A>G
  hgvsp: ENST00000295321.4:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.329A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.192A>G
  hgvsp: ENST00000455721.2:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.216A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.634T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.244A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.431A>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.142A>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu57Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

2-128263316-C-CACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263316
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263319
    reference: chr 2
allele count: 4
allele frequency: 3.413726594637036e-5
allele num: 117174
alternate allele: CACT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.66_68dupAGT
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.175_177dupAGT
  hgvsp: ENSP00000387206.1:p.Ser59dup
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.81_83dupAGT
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.160_162dupAGT
  hgvsp: ENSP00000295321.4:p.Ser54dup
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.205_207dupAGT
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.233_235dupAGT
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.420_422dupAGT
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.318_320dupAGT
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.181_183dupAGT
  hgvsp: ENSP00000399245.2:p.Ser61dup
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.131_133dupAGT
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.644_646dupCTA
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser54dup
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-128263321-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263321
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263321
    reference: chr 2
allele count: 1
allele frequency: 8.578683686775101e-6
allele num: 116568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.418C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.203C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.158C>G
  hgvsp: ENSP00000295321.4:p.Thr53Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.173C>G
  hgvsp: ENSP00000387206.1:p.Thr58Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.129C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.316C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.231C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.179C>G
  hgvsp: ENSP00000399245.2:p.Thr60Ser
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.64C>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.647G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.79C>G
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6145
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr53Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-128263328-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263328
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263328
    reference: chr 2
allele count: 4
allele frequency: 3.451548882561049e-5
allele num: 115890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.411A>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.57A>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.72A>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.654T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.166A>C
  hgvsp: ENSP00000387206.1:p.Asn56His
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.196A>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.309A>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.224A>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.172A>C
  hgvsp: ENSP00000399245.2:p.Asn58His
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.122A>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.151A>C
  hgvsp: ENSP00000295321.4:p.Asn51His
  variant of: http://identifiers.org/hgnc/25467
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn51His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-128263345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263345
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263345
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 110984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.151-17C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.224-17C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.57-17C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.166-17C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.122-17C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.309-17C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.671G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.196-17C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.172-17C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.411-17C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.72-17C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-128263351-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263351
    reference: chr 2
allele count: 1
allele frequency: 9.081167474890572e-6
allele num: 110118
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.151-23T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.122-23T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.166-23T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.72-23T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.309-23T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.677A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.172-23T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.196-23T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.57-23T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.224-23T>C
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.411-23T>C
  variant of: http://identifiers.org/hgnc/25467
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9719
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-128263353-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263353
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263353
    reference: chr 2
allele count: 1
allele frequency: 9.192021325489475e-6
allele num: 108790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.166-25A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.122-25A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.224-25A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.679T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.151-25A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.72-25A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.309-25A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.411-25A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.57-25A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.172-25A>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.196-25A>T
  variant of: http://identifiers.org/hgnc/25467
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

2-128263356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263356
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263356
    reference: chr 2
allele count: 208
allele frequency: 1.94887939434825e-3
allele num: 106728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.57-28C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.682G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.224-28C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.196-28C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.411-28C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.151-28C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.172-28C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.309-28C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.122-28C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.72-28C>T
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.166-28C>T
  variant of: http://identifiers.org/hgnc/25467
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 4.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6081
  bin: 9.75e1
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 12449
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 9
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-128263356-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263356
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263356
    reference: chr 2
allele count: 1
allele frequency: 9.369612472828123e-6
allele num: 106728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.72-28C>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.309-28C>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.224-28C>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.151-28C>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.122-28C>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.172-28C>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.57-28C>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.682G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.411-28C>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.166-28C>A
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.196-28C>A
  variant of: http://identifiers.org/hgnc/25467
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-128263357-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128263357
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 128263357
    reference: chr 2
allele count: 3
allele frequency: 2.890229098826567e-5
allele num: 103798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000486662
  gene symbol: IWS1
  hgvsc: ENST00000486662.1:n.309-29T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000436740
  gene symbol: IWS1
  hgvsc: ENST00000436740.1:n.411-29T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000399245
  ensembl transcript: ENST00000455721
  gene symbol: IWS1
  hgvsc: ENST00000455721.2:c.172-29T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000231731
  ensembl transcript: ENST00000599001
  gene symbol: AC010976.2
  hgvsc: ENST00000599001.1:n.683A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000495369
  gene symbol: IWS1
  hgvsc: ENST00000495369.1:n.57-29T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000460511
  gene symbol: IWS1
  hgvsc: ENST00000460511.1:n.196-29T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000295321
  ensembl transcript: ENST00000295321
  gene symbol: IWS1
  hgvsc: ENST00000295321.4:c.151-29T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000478949
  gene symbol: IWS1
  hgvsc: ENST00000478949.1:n.122-29T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl protein: ENSP00000387206
  ensembl transcript: ENST00000409725
  gene symbol: IWS1
  hgvsc: ENST00000409725.1:c.166-29T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000479083
  gene symbol: IWS1
  hgvsc: ENST00000479083.1:n.72-29T>G
  variant of: http://identifiers.org/hgnc/25467
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163166
  ensembl transcript: ENST00000483889
  gene symbol: IWS1
  hgvsc: ENST00000483889.1:n.224-29T>G
  variant of: http://identifiers.org/hgnc/25467
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

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

GenotypeQuality
all individuals: 3830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25516
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6459
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2006
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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: 908
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.778674e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.640000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -8.179e-1

QD
type: SiteQuality
SIO_000300: 1.631e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.77e-1

FS
type: SiteQuality
SIO_000300: 2.248e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.918e1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4235
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.727e0

DP
type: SiteQuality
SIO_000300: 2.778698e6

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: -6.664e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.91e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.216e0

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.83e-1

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11302
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6457
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 1.245e0

DP
type: SiteQuality
SIO_000300: 2.778059e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2006
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25491
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6459
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.68e1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -8.993e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.777825e6

GenotypeQuality
all individuals: 3828
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4224
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6456
bin: 9.75e1
variant carriers: 4

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-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

DP
type: SiteQuality
SIO_000300: 2.778063e6

FS
type: SiteQuality
SIO_000300: 1.773e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.374e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

GenotypeQuality
all individuals: 11280
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6458
bin: 9.75e1
variant carriers: 23

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

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.478682170542636e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048940570024275e-4
allele num: 66734
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: 8654
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

DP
type: SiteQuality
SIO_000300: 2.778581e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.474e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6436
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66738
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

QD
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
type: SiteQuality
SIO_000300: 4.403e0

BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 102

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 100
allele frequency: 8.638562543192813e-3
allele num: 11576
num of homozygotes: 1

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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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: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

Other
type: Population
allele count: 0
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QD
type: SiteQuality
SIO_000300: 1.379e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.21e-2

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 3.31e-1

BaseQRankSum
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MQ
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SIO_000300: 5.972e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66736
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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African
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 66738
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DP
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ClippingRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 2007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.774951e6

QD
type: SiteQuality
SIO_000300: 1.202e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.774951e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2006
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.338e0

QD
type: SiteQuality
SIO_000300: 1.388e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.93e-1

FS
type: SiteQuality
SIO_000300: 8.055999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.92e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: -1.68e0

DP
type: SiteQuality
SIO_000300: 2.774704e6

MQRankSum
type: SiteQuality
SIO_000300: -1.7e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.01e0

DP
type: SiteQuality
SIO_000300: 2.774249e6

QD
type: SiteQuality
SIO_000300: 1.382e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: -1.027e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.117e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.46e-2

QD
type: SiteQuality
SIO_000300: 1.42e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

DP
type: SiteQuality
SIO_000300: 2.774418e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.774372e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.394e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

FS
type: SiteQuality
SIO_000300: 3.373e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.253e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 2.075e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.354e1

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.774026e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 33

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 28
allele frequency: 3.235498035590478e-3
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49667246237784e-5
allele num: 66716
num of homozygotes: 0

South Asian
type: Population
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: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.72e-2

QD
type: SiteQuality
SIO_000300: 1.597e1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.777379e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e0

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66714
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

InbreedingCoeff
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SIO_000300: 1.9e-3

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

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

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

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

South Asian
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allele num: 16512
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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QD
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SIO_000300: 1.495e1

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

South Asian
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African
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VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

DP
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FS
type: SiteQuality
SIO_000300: 8.39e-1

MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 1.6e-3

ClippingRankSum
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QD
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SIO_000300: 1.448e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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 frequency: 0.0e0
allele num: 10396
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

European (Non-Finnish)
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allele count: 16
allele frequency: 2.398584834947381e-4
allele num: 66706
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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Other
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FS
type: SiteQuality
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QD
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MQRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66702
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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Other
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African
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VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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FS
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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MQ
type: SiteQuality
SIO_000300: 5.969e1

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

South Asian
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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Latino
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allele frequency: 8.638562543192812e-5
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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SIO_000300: 1.144e0

QD
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MQRankSum
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SIO_000300: 8.0e-3

VQSLOD
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SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

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

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

East Asian
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allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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MQRankSum
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FS
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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SIO_000300: 1.362e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

East Asian
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.496251874062968e-5
allele num: 66700
num of homozygotes: 0

MQ
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.67e0

ClippingRankSum
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SIO_000300: -1.427e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

East Asian
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Other
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African
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allele frequency: 0.0e0
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South Asian
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Latino
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allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 66700
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East Asian
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Other
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Latino
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South Asian
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African
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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Other
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Latino
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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East Asian
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11576
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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
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BaseQRankSum
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SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.186e0

MQRankSum
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SIO_000300: -2.419e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.887e1

MQ
type: SiteQuality
SIO_000300: 5.572e1

GenotypeQuality
all individuals: 1440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

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

Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 2.768335e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: -6.717e0

FS
type: SiteQuality
SIO_000300: 1.0198e1

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.302e1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.65e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

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

Latino
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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: 16490
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.767247e6

BaseQRankSum
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SIO_000300: 7.08e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.49e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2010
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.98e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.766807e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.049e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 7.945e0

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.766502e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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DP
type: SiteQuality
SIO_000300: 2.760293e6

MQRankSum
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ClippingRankSum
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SIO_000300: -2.38e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 3.568e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.701202949165696e-5
allele num: 10308
num of homozygotes: 0

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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South Asian
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allele frequency: 4.306632213608958e-4
allele num: 16254
num of homozygotes: 0

East Asian
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QD
type: SiteQuality
SIO_000300: 1.294e1

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

African
type: Population
allele count: 0
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allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.287726358148894e-5
allele num: 15904
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: 66332
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

QD
type: SiteQuality
SIO_000300: 1.415e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.311e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

GenotypeQuality
all individuals: 1695
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5683
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6155
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
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: 3
allele frequency: 1.908396946564885e-4
allele num: 15720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 11564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

FS
type: SiteQuality
SIO_000300: 8.97e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 2.73732e6

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

GenotypeQuality
all individuals: 5677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6153
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10959
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.390593047034765e-5
allele num: 15648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 890
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.309e0

FS
type: SiteQuality
SIO_000300: 2.058e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

DP
type: SiteQuality
SIO_000300: 2.734724e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.631e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

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

GenotypeQuality
all individuals: 3806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 282
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6152
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2008
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027734043841589e-5
allele num: 66056
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: 8630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.722276e6

FS
type: SiteQuality
SIO_000300: 8.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.29e0

QD
type: SiteQuality
SIO_000300: 1.439e1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -9.671e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

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

GenotypeQuality
all individuals: 5670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2652
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6151
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 4119
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3804
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
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: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.720351e6

QD
type: SiteQuality
SIO_000300: 1.359e1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

FS
type: SiteQuality
SIO_000300: 8.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.66e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

GenotypeQuality
all individuals: 21955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6149
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5656
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4099
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14832
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: 9976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65870
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.832e0

DP
type: SiteQuality
SIO_000300: 2.704133e6

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

GenotypeQuality
all individuals: 308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 1

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: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14826
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.034e0

FS
type: SiteQuality
SIO_000300: 3.956e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.572e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 1.222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 2.70214e6

VQSLOD
type: SiteQuality
SIO_000300: -1.824e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 10667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6148
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4422
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14312
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.075661267172442e-4
allele num: 9754
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.321e0

MQ
type: SiteQuality
SIO_000300: 5.544e1

FS
type: SiteQuality
SIO_000300: 2.457e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
SIO_000300: 2.681798e6

GenotypeQuality
all individuals: 5635
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
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GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 77
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GenotypeQuality
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GenotypeQuality
all individuals: 10597
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
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GenotypeQuality
all individuals: 4754
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
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variant carriers: 0

GenotypeQuality
all individuals: 4078
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

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

African
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allele frequency: 1.034554107179805e-4
allele num: 9666
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65264
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.346e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 2.670103e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

GenotypeDepth
all individuals: 6849
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.151764018332257e-5
allele num: 65022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

InbreedingCoeff
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SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.660138e6

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

FS
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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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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: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 2.611172e6

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e0

FS
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

GenotypeQuality
all individuals: 235
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1971
bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3682
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583982766267503e-5
allele num: 63132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10804
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.575433e6

QD
type: SiteQuality
SIO_000300: 1.751e1

VQSLOD
type: SiteQuality
SIO_000300: -9.045e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.96e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 680
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4837
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variant carriers: 0

GenotypeQuality
all individuals: 3964
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1971
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3682
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GenotypeQuality
all individuals: 1391
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597188947452484e-5
allele num: 62610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 3.68e0

DP
type: SiteQuality
SIO_000300: 2.546247e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

GenotypeQuality
all individuals: 1607
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5214
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GenotypeQuality
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bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1955
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variant carriers: 2

GenotypeQuality
all individuals: 3606
bin: 7.25e1
variant carriers: 2

East Asian
type: Population
allele count: 194
allele frequency: 2.445789208270297e-2
allele num: 7932
num of homozygotes: 9

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

African
type: Population
allele count: 5
allele frequency: 5.620503597122302e-4
allele num: 8896
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 6.132461161079313e-4
allele num: 9784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62295507660348e-5
allele num: 61616
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.789549033643522e-4
allele num: 11176
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.243e0

DP
type: SiteQuality
SIO_000300: 2.482188e6

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
all individuals: 546
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6081
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variant carriers: 1

GenotypeQuality
all individuals: 959
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GenotypeQuality
all individuals: 1374
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variant carriers: 0

GenotypeQuality
all individuals: 1955
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 536
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GenotypeQuality
all individuals: 10
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62295507660348e-5
allele num: 61616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.243e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

DP
type: SiteQuality
SIO_000300: 2.482188e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 6.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeQuality
all individuals: 4370
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variant carriers: 0

GenotypeQuality
all individuals: 3110
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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: 1884
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GenotypeQuality
all individuals: 5180
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GenotypeQuality
all individuals: 541
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GenotypeQuality
all individuals: 2008
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GenotypeQuality
all individuals: 594
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GenotypeQuality
all individuals: 1055
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GenotypeQuality
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GenotypeQuality
all individuals: 2061
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GenotypeQuality
all individuals: 2601
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GenotypeQuality
all individuals: 1644
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GenotypeQuality
all individuals: 5769
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9392
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.999500049995001e-5
allele num: 60006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

DP
type: SiteQuality
SIO_000300: 2.345285e6

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2