21-35094912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094912
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094912
    reference: chr 21
allele count: 1
allele frequency: 8.551540132377842e-6
allele num: 116938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.141T>C
  hgvsp: ENST00000399352.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.141T>C
  hgvsp: ENST00000399349.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.141T>C
  hgvsp: ENST00000381283.3:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.141T>C
  hgvsp: ENST00000381291.4:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.141T>C
  hgvsp: ENST00000444491.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.141T>C
  hgvsp: ENST00000399326.3:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136425A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.141T>C
  hgvsp: ENST00000379960.5:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.141T>C
  hgvsp: ENST00000399338.4:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.141T>C
  hgvsp: ENST00000451686.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.141T>C
  hgvsp: ENST00000399355.2:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.141T>C
  hgvsp: ENST00000399353.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.141T>C
  hgvsp: ENST00000437442.2:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.141T>C
  hgvsp: ENST00000381285.4:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.141T>C
  hgvsp: ENST00000399367.3:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.141T>C
  hgvsp: ENST00000381318.3:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe47Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

21-35094920-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094920
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094920
    reference: chr 21
allele count: 1
allele frequency: 8.49689863199932e-6
allele num: 117690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.149A>T
  hgvsp: ENSP00000387377.2:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.149A>T
  hgvsp: ENSP00000382292.2:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.149A>T
  hgvsp: ENSP00000369294.5:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136433T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.149A>T
  hgvsp: ENSP00000382301.3:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.149A>T
  hgvsp: ENSP00000382275.4:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.149A>T
  hgvsp: ENSP00000407132.1:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.149A>T
  hgvsp: ENSP00000370719.3:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.149A>T
  hgvsp: ENSP00000382290.1:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.149A>T
  hgvsp: ENSP00000370691.4:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.149A>T
  hgvsp: ENSP00000382265.3:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.149A>T
  hgvsp: ENSP00000382289.1:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.149A>T
  hgvsp: ENSP00000400079.1:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.149A>T
  hgvsp: ENSP00000370685.4:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.149A>T
  hgvsp: ENSP00000370683.3:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.149A>T
  hgvsp: ENSP00000382286.1:p.Gln50Leu
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln50Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

21-35094921-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094921
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094921
    reference: chr 21
allele count: 1
allele frequency: 8.488964346349745e-6
allele num: 117800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.150A>G
  hgvsp: ENST00000399352.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.150A>G
  hgvsp: ENST00000381285.4:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.150A>G
  hgvsp: ENST00000399326.3:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.150A>G
  hgvsp: ENST00000399367.3:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.150A>G
  hgvsp: ENST00000381318.3:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.150A>G
  hgvsp: ENST00000381291.4:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.150A>G
  hgvsp: ENST00000451686.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.150A>G
  hgvsp: ENST00000381283.3:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.150A>G
  hgvsp: ENST00000399338.4:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.150A>G
  hgvsp: ENST00000399353.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.150A>G
  hgvsp: ENST00000379960.5:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.150A>G
  hgvsp: ENST00000437442.2:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136434T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.150A>G
  hgvsp: ENST00000399355.2:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.150A>G
  hgvsp: ENST00000399349.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.150A>G
  hgvsp: ENST00000444491.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln50Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

21-35094927-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094927
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094927
    reference: chr 21
allele count: 1
allele frequency: 8.466683600033867e-6
allele num: 118110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.156G>T
  hgvsp: ENST00000399349.1:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.156G>T
  hgvsp: ENST00000381285.4:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.156G>T
  hgvsp: ENST00000399367.3:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.156G>T
  hgvsp: ENST00000381318.3:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.156G>T
  hgvsp: ENST00000451686.1:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.156G>T
  hgvsp: ENST00000399338.4:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.156G>T
  hgvsp: ENST00000399352.1:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136440C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.156G>T
  hgvsp: ENST00000399353.1:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.156G>T
  hgvsp: ENST00000381291.4:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.156G>T
  hgvsp: ENST00000381283.3:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.156G>T
  hgvsp: ENST00000399326.3:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.156G>T
  hgvsp: ENST00000379960.5:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.156G>T
  hgvsp: ENST00000437442.2:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.156G>T
  hgvsp: ENST00000444491.1:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.156G>T
  hgvsp: ENST00000399355.2:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly52Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

21-35094939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094939
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094939
    reference: chr 21
allele count: 2
allele frequency: 1.695921309251251e-5
allele num: 117930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.168T>C
  hgvsp: ENST00000381291.4:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.168T>C
  hgvsp: ENST00000381283.3:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.168T>C
  hgvsp: ENST00000444491.1:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.168T>C
  hgvsp: ENST00000381285.4:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.168T>C
  hgvsp: ENST00000399352.1:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.168T>C
  hgvsp: ENST00000437442.2:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.168T>C
  hgvsp: ENST00000379960.5:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.168T>C
  hgvsp: ENST00000381318.3:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.168T>C
  hgvsp: ENST00000451686.1:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.168T>C
  hgvsp: ENST00000399367.3:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.168T>C
  hgvsp: ENST00000399355.2:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136452A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.168T>C
  hgvsp: ENST00000399353.1:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.168T>C
  hgvsp: ENST00000399326.3:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.168T>C
  hgvsp: ENST00000399338.4:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.168T>C
  hgvsp: ENST00000399349.1:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro56Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

21-35094955-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094955
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094955
    reference: chr 21
allele count: 1
allele frequency: 8.537085097664253e-6
allele num: 117136
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.184T>C
  hgvsp: ENSP00000370719.3:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136468A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.184T>C
  hgvsp: ENSP00000400079.1:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.184T>C
  hgvsp: ENSP00000387377.2:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.184T>C
  hgvsp: ENSP00000382286.1:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.184T>C
  hgvsp: ENSP00000369294.5:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.184T>C
  hgvsp: ENSP00000407132.1:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.184T>C
  hgvsp: ENSP00000382290.1:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.184T>C
  hgvsp: ENSP00000382275.4:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.184T>C
  hgvsp: ENSP00000382265.3:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.184T>C
  hgvsp: ENSP00000382289.1:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.184T>C
  hgvsp: ENSP00000370685.4:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.184T>C
  hgvsp: ENSP00000382292.2:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.184T>C
  hgvsp: ENSP00000370683.3:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.184T>C
  hgvsp: ENSP00000370691.4:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.184T>C
  hgvsp: ENSP00000382301.3:p.Trp62Arg
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17257
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp62Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

21-35094956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094956
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094956
    reference: chr 21
allele count: 1
allele frequency: 8.537230863797019e-6
allele num: 117134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185G>A
  hgvsp: ENSP00000382275.4:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185G>A
  hgvsp: ENSP00000370719.3:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185G>A
  hgvsp: ENSP00000370685.4:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185G>A
  hgvsp: ENSP00000407132.1:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185G>A
  hgvsp: ENSP00000382265.3:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136469C>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185G>A
  hgvsp: ENSP00000382289.1:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185G>A
  hgvsp: ENSP00000370683.3:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185G>A
  hgvsp: ENSP00000382301.3:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185G>A
  hgvsp: ENSP00000369294.5:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185G>A
  hgvsp: ENSP00000382292.2:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185G>A
  hgvsp: ENSP00000382290.1:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185G>A
  hgvsp: ENSP00000400079.1:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185G>A
  hgvsp: ENSP00000382286.1:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185G>A
  hgvsp: ENSP00000387377.2:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185G>A
  hgvsp: ENSP00000370691.4:p.Trp62Ter
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp62Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

21-35094960-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094960
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094960
    reference: chr 21
allele count: 1
allele frequency: 8.555198138388885e-6
allele num: 116888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136473T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+4A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.185+4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

21-35094974-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094974
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094974
    reference: chr 21
allele count: 1
allele frequency: 8.63751792284969e-6
allele num: 115774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136487T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+18A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

21-35094984-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094984
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094984
    reference: chr 21
allele count: 1
allele frequency: 8.70412923891094e-6
allele num: 114888
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136497T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+28A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

21-35094985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094985
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094985
    reference: chr 21
allele count: 2
allele frequency: 1.745292074628689e-5
allele num: 114594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136498G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+29C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15744
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/21-35094986-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094986
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094986
    reference: chr 21
allele count: 1
allele frequency: 8.717939776472025e-6
allele num: 114706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136499T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+30A>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

21-35094986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094986
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094986
    reference: chr 21
allele count: 2
allele frequency: 1.743587955294405e-5
allele num: 114706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136499T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+30A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

21-35094987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094987
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094987
    reference: chr 21
allele count: 1
allele frequency: 8.722958827634334e-6
allele num: 114640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136500A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+31T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/21-35094989-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094989
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094989
    reference: chr 21
allele count: 1
allele frequency: 8.750131251968779e-6
allele num: 114284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136502T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+33A>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/21-35094998-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35094998
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35094998
    reference: chr 21
allele count: 1
allele frequency: 8.905671131376461e-6
allele num: 112288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136511G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+42C>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

21-35095002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35095002
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35095002
    reference: chr 21
allele count: 1
allele frequency: 8.969092507220119e-6
allele num: 111494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136515T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+46A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

21-35095002-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35095002
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35095002
    reference: chr 21
allele count: 1
allele frequency: 8.969092507220119e-6
allele num: 111494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136515T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+46A>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS

21-35095004-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35095004
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35095004
    reference: chr 21
allele count: 1
allele frequency: 9.024944947835819e-6
allele num: 110804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-136517T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.185+48A>G
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

21-35107301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107301
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107301
    reference: chr 21
allele count: 1
allele frequency: 8.682967490969713e-6
allele num: 115168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148814C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.186-48G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

21-35107302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107302
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107302
    reference: chr 21
allele count: 1
allele frequency: 8.681761355743853e-6
allele num: 115184
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148815A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.186-47T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/21-35107304-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107304
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107304
    reference: chr 21
allele count: 2
allele frequency: 1.737166681143056e-5
allele num: 115130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148817G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.186-45C>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

21-35107310-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107310
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107310
    reference: chr 21
allele count: 1
allele frequency: 8.668215387815956e-6
allele num: 115364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148823A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.186-39T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

21-35107316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107316
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107316
    reference: chr 21
allele count: 36
allele frequency: 3.114402380787598e-4
allele num: 115592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148829G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.186-33C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21004
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-35107321-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107321
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107321
    reference: chr 21
allele count: 1
allele frequency: 8.627085597943303e-6
allele num: 115914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148834C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.186-28G>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

21-35107352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107352
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107352
    reference: chr 21
allele count: 20
allele frequency: 1.686511282760482e-4
allele num: 118588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.189A>G
  hgvsp: ENST00000399353.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.189A>G
  hgvsp: ENST00000381285.4:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.189A>G
  hgvsp: ENST00000379960.5:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.189A>G
  hgvsp: ENST00000399338.4:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.189A>G
  hgvsp: ENST00000399349.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.7A>G
  hgvsp: ENST00000456489.1:c.7A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.189A>G
  hgvsp: ENST00000381283.3:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.189A>G
  hgvsp: ENST00000451686.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.189A>G
  hgvsp: ENST00000399355.2:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.189A>G
  hgvsp: ENST00000399326.3:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.189A>G
  hgvsp: ENST00000399367.3:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.189A>G
  hgvsp: ENST00000399352.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.189A>G
  hgvsp: ENST00000444491.1:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.189A>G
  hgvsp: ENST00000381318.3:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.189A>G
  hgvsp: ENST00000437442.2:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.189A>G
  hgvsp: ENST00000381291.4:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148865T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Ala63Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

21-35107356-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107356
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107356
    reference: chr 21
allele count: 1
allele frequency: 8.397715821296607e-6
allele num: 119080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.193G>A
  hgvsp: ENSP00000382292.2:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.193G>A
  hgvsp: ENSP00000387377.2:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.193G>A
  hgvsp: ENSP00000370683.3:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.193G>A
  hgvsp: ENSP00000407132.1:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.11G>A
  hgvsp: ENSP00000411464.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.193G>A
  hgvsp: ENSP00000370685.4:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.193G>A
  hgvsp: ENSP00000370691.4:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.193G>A
  hgvsp: ENSP00000400079.1:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.193G>A
  hgvsp: ENSP00000382290.1:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.193G>A
  hgvsp: ENSP00000382286.1:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148869C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.193G>A
  hgvsp: ENSP00000382301.3:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.193G>A
  hgvsp: ENSP00000382275.4:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.193G>A
  hgvsp: ENSP00000370719.3:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.193G>A
  hgvsp: ENSP00000369294.5:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.193G>A
  hgvsp: ENSP00000382289.1:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.193G>A
  hgvsp: ENSP00000382265.3:p.Ala65Thr
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala65Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

21-35107362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107362
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107362
    reference: chr 21
allele count: 1
allele frequency: 8.347106058329577e-6
allele num: 119802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.199A>G
  hgvsp: ENSP00000370691.4:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.199A>G
  hgvsp: ENSP00000370685.4:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.199A>G
  hgvsp: ENSP00000387377.2:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.199A>G
  hgvsp: ENSP00000382292.2:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.199A>G
  hgvsp: ENSP00000382265.3:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.199A>G
  hgvsp: ENSP00000369294.5:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.199A>G
  hgvsp: ENSP00000382290.1:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.17A>G
  hgvsp: ENSP00000411464.1:p.Met7Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148875T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.199A>G
  hgvsp: ENSP00000400079.1:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.199A>G
  hgvsp: ENSP00000382289.1:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.199A>G
  hgvsp: ENSP00000382286.1:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.199A>G
  hgvsp: ENSP00000370683.3:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.199A>G
  hgvsp: ENSP00000382301.3:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.199A>G
  hgvsp: ENSP00000382275.4:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.199A>G
  hgvsp: ENSP00000407132.1:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.199A>G
  hgvsp: ENSP00000370719.3:p.Met67Val
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met67Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

21-35107378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107378
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107378
    reference: chr 21
allele count: 5
allele frequency: 4.137565787296018e-5
allele num: 120844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.215G>A
  hgvsp: ENSP00000370685.4:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.215G>A
  hgvsp: ENSP00000382289.1:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148891C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.215G>A
  hgvsp: ENSP00000370719.3:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.215G>A
  hgvsp: ENSP00000382290.1:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.215G>A
  hgvsp: ENSP00000382286.1:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000407132
  ensembl transcript: ENST00000451686
  gene symbol: ITSN1
  hgvsc: ENST00000451686.1:c.215G>A
  hgvsp: ENSP00000407132.1:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.215G>A
  hgvsp: ENSP00000382275.4:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.33G>A
  hgvsp: ENSP00000411464.1:p.Arg12Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.215G>A
  hgvsp: ENSP00000369294.5:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.215G>A
  hgvsp: ENSP00000370683.3:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.215G>A
  hgvsp: ENSP00000400079.1:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.215G>A
  hgvsp: ENSP00000387377.2:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.215G>A
  hgvsp: ENSP00000382265.3:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.215G>A
  hgvsp: ENSP00000370691.4:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.215G>A
  hgvsp: ENSP00000382301.3:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.215G>A
  hgvsp: ENSP00000382292.2:p.Arg72Lys
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg72Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

21-35107401-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107401
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107401
    reference: chr 21
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.56A>G
  hgvsp: ENSP00000411464.1:p.Ile20Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.238A>G
  hgvsp: ENSP00000382286.1:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.238A>G
  hgvsp: ENSP00000382292.2:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.238A>G
  hgvsp: ENSP00000370719.3:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.238A>G
  hgvsp: ENSP00000370691.4:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.238A>G
  hgvsp: ENSP00000382301.3:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.238A>G
  hgvsp: ENSP00000382289.1:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.238A>G
  hgvsp: ENSP00000382275.4:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.238A>G
  hgvsp: ENSP00000400079.1:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.238A>G
  hgvsp: ENSP00000382290.1:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.238A>G
  hgvsp: ENSP00000369294.5:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148914T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.238A>G
  hgvsp: ENSP00000370683.3:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.238A>G
  hgvsp: ENSP00000382265.3:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.238A>G
  hgvsp: ENSP00000370685.4:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.238A>G
  hgvsp: ENSP00000387377.2:p.Ile80Val
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile80Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-35107403-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107403
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107403
    reference: chr 21
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.240A>C
  hgvsp: ENST00000381291.4:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.240A>C
  hgvsp: ENST00000444491.1:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.240A>C
  hgvsp: ENST00000381285.4:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.240A>C
  hgvsp: ENST00000379960.5:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.240A>C
  hgvsp: ENST00000399352.1:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.240A>C
  hgvsp: ENST00000381283.3:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148916T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.240A>C
  hgvsp: ENST00000399367.3:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.240A>C
  hgvsp: ENST00000399326.3:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.240A>C
  hgvsp: ENST00000381318.3:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.240A>C
  hgvsp: ENST00000437442.2:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.240A>C
  hgvsp: ENST00000399353.1:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.240A>C
  hgvsp: ENST00000399338.4:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.58A>C
  hgvsp: ENST00000456489.1:c.58A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.240A>C
  hgvsp: ENST00000399355.2:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.240A>C
  hgvsp: ENST00000399349.1:c.240A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile80Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

21-35107412-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107412
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107412
    reference: chr 21
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.249A>G
  hgvsp: ENST00000399349.1:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.249A>G
  hgvsp: ENST00000437442.2:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.249A>G
  hgvsp: ENST00000381318.3:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.249A>G
  hgvsp: ENST00000381283.3:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.249A>G
  hgvsp: ENST00000399326.3:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.249A>G
  hgvsp: ENST00000399355.2:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.249A>G
  hgvsp: ENST00000381291.4:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.249A>G
  hgvsp: ENST00000381285.4:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.249A>G
  hgvsp: ENST00000399338.4:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.249A>G
  hgvsp: ENST00000399353.1:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.67A>G
  hgvsp: ENST00000456489.1:c.67A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.249A>G
  hgvsp: ENST00000379960.5:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.249A>G
  hgvsp: ENST00000399367.3:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.249A>G
  hgvsp: ENST00000399352.1:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.249A>G
  hgvsp: ENST00000444491.1:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148925T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys83Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

21-35107417-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107417
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107417
    reference: chr 21
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.254T>C
  hgvsp: ENSP00000382301.3:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148930A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.254T>C
  hgvsp: ENSP00000370683.3:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.254T>C
  hgvsp: ENSP00000382289.1:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.254T>C
  hgvsp: ENSP00000382290.1:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.254T>C
  hgvsp: ENSP00000370719.3:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.254T>C
  hgvsp: ENSP00000400079.1:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.254T>C
  hgvsp: ENSP00000382275.4:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.254T>C
  hgvsp: ENSP00000369294.5:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.254T>C
  hgvsp: ENSP00000382286.1:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.254T>C
  hgvsp: ENSP00000370691.4:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.254T>C
  hgvsp: ENSP00000387377.2:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.254T>C
  hgvsp: ENSP00000382265.3:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.254T>C
  hgvsp: ENSP00000382292.2:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.254T>C
  hgvsp: ENSP00000370685.4:p.Ile85Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.72T>C
  hgvsp: ENSP00000411464.1:p.Ile25Thr
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile85Thr
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: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

21-35107451-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107451
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107451
    reference: chr 21
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.288T>C
  hgvsp: ENST00000381285.4:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148964A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.288T>C
  hgvsp: ENST00000399367.3:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.288T>C
  hgvsp: ENST00000437442.2:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.288T>C
  hgvsp: ENST00000399355.2:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.288T>C
  hgvsp: ENST00000379960.5:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.288T>C
  hgvsp: ENST00000399326.3:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.288T>C
  hgvsp: ENST00000444491.1:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.288T>C
  hgvsp: ENST00000399352.1:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.288T>C
  hgvsp: ENST00000399349.1:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.288T>C
  hgvsp: ENST00000399338.4:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.288T>C
  hgvsp: ENST00000399353.1:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.288T>C
  hgvsp: ENST00000381283.3:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.288T>C
  hgvsp: ENST00000381291.4:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.288T>C
  hgvsp: ENST00000381318.3:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.106T>C
  hgvsp: ENST00000456489.1:c.106T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser96Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

21-35107460-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107460
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107460
    reference: chr 21
allele count: 111
allele frequency: 9.14619073515598e-4
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.297C>G
  hgvsp: ENST00000399355.2:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.297C>G
  hgvsp: ENST00000379960.5:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.297C>G
  hgvsp: ENST00000381285.4:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.297C>G
  hgvsp: ENST00000399353.1:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.297C>G
  hgvsp: ENST00000399352.1:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.297C>G
  hgvsp: ENST00000399367.3:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.297C>G
  hgvsp: ENST00000381283.3:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.297C>G
  hgvsp: ENST00000437442.2:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.297C>G
  hgvsp: ENST00000381318.3:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.115C>G
  hgvsp: ENST00000456489.1:c.115C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.297C>G
  hgvsp: ENST00000444491.1:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.297C>G
  hgvsp: ENST00000381291.4:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.297C>G
  hgvsp: ENST00000399338.4:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.297C>G
  hgvsp: ENST00000399349.1:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.297C>G
  hgvsp: ENST00000399326.3:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148973G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro99Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

21-35107461-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107461
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107459
    reference: chr 21
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.299_300delCT
  hgvsp: ENSP00000382290.1:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.299_300delCT
  hgvsp: ENSP00000369294.5:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.299_300delCT
  hgvsp: ENSP00000382301.3:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148976_287-148975delAG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.299_300delCT
  hgvsp: ENSP00000400079.1:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.299_300delCT
  hgvsp: ENSP00000382292.2:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.299_300delCT
  hgvsp: ENSP00000370683.3:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.299_300delCT
  hgvsp: ENSP00000370685.4:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.299_300delCT
  hgvsp: ENSP00000382275.4:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.117_118delCT
  hgvsp: ENSP00000411464.1:p.Pro40ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.299_300delCT
  hgvsp: ENSP00000382289.1:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.299_300delCT
  hgvsp: ENSP00000370691.4:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.299_300delCT
  hgvsp: ENSP00000370719.3:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.299_300delCT
  hgvsp: ENSP00000387377.2:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.299_300delCT
  hgvsp: ENSP00000382286.1:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.299_300delCT
  hgvsp: ENSP00000382265.3:p.Pro100ArgfsTer11
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro100ArgfsTer11
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: CCT
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

21-35107462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107462
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107462
    reference: chr 21
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.299C>T
  hgvsp: ENSP00000400079.1:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.299C>T
  hgvsp: ENSP00000370685.4:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148975G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.299C>T
  hgvsp: ENSP00000382289.1:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.299C>T
  hgvsp: ENSP00000382292.2:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.299C>T
  hgvsp: ENSP00000382301.3:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.299C>T
  hgvsp: ENSP00000370691.4:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.117C>T
  hgvsp: ENSP00000411464.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.299C>T
  hgvsp: ENSP00000382286.1:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.299C>T
  hgvsp: ENSP00000370719.3:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.299C>T
  hgvsp: ENSP00000382290.1:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.299C>T
  hgvsp: ENSP00000382275.4:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.299C>T
  hgvsp: ENSP00000369294.5:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.299C>T
  hgvsp: ENSP00000370683.3:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.299C>T
  hgvsp: ENSP00000382265.3:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.299C>T
  hgvsp: ENSP00000387377.2:p.Pro100Leu
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro100Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

21-35107463-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107463
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107463
    reference: chr 21
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.300T>C
  hgvsp: ENST00000444491.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.300T>C
  hgvsp: ENST00000399353.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.300T>C
  hgvsp: ENST00000381318.3:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.300T>C
  hgvsp: ENST00000399367.3:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.300T>C
  hgvsp: ENST00000399352.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.300T>C
  hgvsp: ENST00000399338.4:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.300T>C
  hgvsp: ENST00000381291.4:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.118T>C
  hgvsp: ENST00000456489.1:c.118T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.300T>C
  hgvsp: ENST00000399355.2:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.300T>C
  hgvsp: ENST00000379960.5:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.300T>C
  hgvsp: ENST00000381285.4:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.300T>C
  hgvsp: ENST00000381283.3:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.300T>C
  hgvsp: ENST00000437442.2:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.300T>C
  hgvsp: ENST00000399326.3:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148976A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.300T>C
  hgvsp: ENST00000399349.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro100Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

21-35107474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107474
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107474
    reference: chr 21
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.311A>G
  hgvsp: ENSP00000370719.3:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.311A>G
  hgvsp: ENSP00000382265.3:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.311A>G
  hgvsp: ENSP00000370683.3:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.129A>G
  hgvsp: ENSP00000411464.1:p.Gln44Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.311A>G
  hgvsp: ENSP00000382289.1:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148987T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.311A>G
  hgvsp: ENSP00000369294.5:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.311A>G
  hgvsp: ENSP00000387377.2:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.311A>G
  hgvsp: ENSP00000382275.4:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.311A>G
  hgvsp: ENSP00000382290.1:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.311A>G
  hgvsp: ENSP00000370685.4:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.311A>G
  hgvsp: ENSP00000382292.2:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.311A>G
  hgvsp: ENSP00000382286.1:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.311A>G
  hgvsp: ENSP00000370691.4:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.311A>G
  hgvsp: ENSP00000382301.3:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.311A>G
  hgvsp: ENSP00000400079.1:p.Gln104Arg
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln104Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-35107479-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107479
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107479
    reference: chr 21
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.316C>A
  hgvsp: ENSP00000400079.1:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.316C>A
  hgvsp: ENSP00000382290.1:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.316C>A
  hgvsp: ENSP00000369294.5:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148992G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.316C>A
  hgvsp: ENSP00000370683.3:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.316C>A
  hgvsp: ENSP00000370685.4:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.316C>A
  hgvsp: ENSP00000382301.3:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.316C>A
  hgvsp: ENSP00000382289.1:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.316C>A
  hgvsp: ENSP00000382286.1:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.134C>A
  hgvsp: ENSP00000411464.1:p.Pro46Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.316C>A
  hgvsp: ENSP00000382292.2:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.316C>A
  hgvsp: ENSP00000370719.3:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.316C>A
  hgvsp: ENSP00000382275.4:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.316C>A
  hgvsp: ENSP00000387377.2:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.316C>A
  hgvsp: ENSP00000370691.4:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.316C>A
  hgvsp: ENSP00000382265.3:p.Pro106Thr
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro106Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/21-35107481-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107481
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107481
    reference: chr 21
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.318A>C
  hgvsp: ENST00000399349.1:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.318A>C
  hgvsp: ENST00000399326.3:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.318A>C
  hgvsp: ENST00000381285.4:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.318A>C
  hgvsp: ENST00000444491.1:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.318A>C
  hgvsp: ENST00000381318.3:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.318A>C
  hgvsp: ENST00000437442.2:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.318A>C
  hgvsp: ENST00000379960.5:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.318A>C
  hgvsp: ENST00000399353.1:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.318A>C
  hgvsp: ENST00000399338.4:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.318A>C
  hgvsp: ENST00000381291.4:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.318A>C
  hgvsp: ENST00000381283.3:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.136A>C
  hgvsp: ENST00000456489.1:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.318A>C
  hgvsp: ENST00000399352.1:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.318A>C
  hgvsp: ENST00000399355.2:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.318A>C
  hgvsp: ENST00000399367.3:c.318A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148994T>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro106Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

21-35107481-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107481
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107481
    reference: chr 21
allele count: 16
allele frequency: 1.318456746378364e-4
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.318A>G
  hgvsp: ENST00000399355.2:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.318A>G
  hgvsp: ENST00000399349.1:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.318A>G
  hgvsp: ENST00000399353.1:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.136A>G
  hgvsp: ENST00000456489.1:c.136A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.318A>G
  hgvsp: ENST00000437442.2:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.318A>G
  hgvsp: ENST00000381291.4:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.318A>G
  hgvsp: ENST00000399326.3:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.318A>G
  hgvsp: ENST00000381285.4:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.318A>G
  hgvsp: ENST00000379960.5:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.318A>G
  hgvsp: ENST00000444491.1:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.318A>G
  hgvsp: ENST00000381318.3:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.318A>G
  hgvsp: ENST00000399352.1:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.318A>G
  hgvsp: ENST00000399367.3:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-148994T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.318A>G
  hgvsp: ENST00000399338.4:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.318A>G
  hgvsp: ENST00000381283.3:c.318A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro106Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

21-35107490-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107490
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107490
    reference: chr 21
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.327T>G
  hgvsp: ENSP00000370691.4:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149003A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.327T>G
  hgvsp: ENSP00000382275.4:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.327T>G
  hgvsp: ENSP00000382301.3:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.327T>G
  hgvsp: ENSP00000369294.5:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.145T>G
  hgvsp: ENSP00000411464.1:p.Ile49Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.327T>G
  hgvsp: ENSP00000382265.3:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.327T>G
  hgvsp: ENSP00000382290.1:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.327T>G
  hgvsp: ENSP00000382292.2:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.327T>G
  hgvsp: ENSP00000370719.3:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.327T>G
  hgvsp: ENSP00000400079.1:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.327T>G
  hgvsp: ENSP00000382289.1:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.327T>G
  hgvsp: ENSP00000370683.3:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.327T>G
  hgvsp: ENSP00000387377.2:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.327T>G
  hgvsp: ENSP00000382286.1:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.327T>G
  hgvsp: ENSP00000370685.4:p.Ile109Met
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile109Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

21-35107494-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107494
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107494
    reference: chr 21
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.331A>T
  hgvsp: ENSP00000369294.5:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.331A>T
  hgvsp: ENSP00000387377.2:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.331A>T
  hgvsp: ENSP00000382265.3:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.331A>T
  hgvsp: ENSP00000370719.3:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.331A>T
  hgvsp: ENSP00000400079.1:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.331A>T
  hgvsp: ENSP00000382289.1:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.149A>T
  hgvsp: ENSP00000411464.1:p.Ser51Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.331A>T
  hgvsp: ENSP00000382290.1:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.331A>T
  hgvsp: ENSP00000370683.3:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.331A>T
  hgvsp: ENSP00000382286.1:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.331A>T
  hgvsp: ENSP00000370685.4:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.331A>T
  hgvsp: ENSP00000382301.3:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.331A>T
  hgvsp: ENSP00000370691.4:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149007T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.331A>T
  hgvsp: ENSP00000382275.4:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.331A>T
  hgvsp: ENSP00000382292.2:p.Ser111Cys
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser111Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

21-35107496-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107496
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107496
    reference: chr 21
allele count: 4
allele frequency: 3.297228679295053e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.333C>T
  hgvsp: ENST00000381285.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.151C>T
  hgvsp: ENST00000456489.1:c.151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.333C>T
  hgvsp: ENST00000381318.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.333C>T
  hgvsp: ENST00000379960.5:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.333C>T
  hgvsp: ENST00000399349.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149009G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.333C>T
  hgvsp: ENST00000399326.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.333C>T
  hgvsp: ENST00000399353.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.333C>T
  hgvsp: ENST00000444491.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.333C>T
  hgvsp: ENST00000399338.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.333C>T
  hgvsp: ENST00000399352.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.333C>T
  hgvsp: ENST00000381283.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.333C>T
  hgvsp: ENST00000437442.2:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.333C>T
  hgvsp: ENST00000381291.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.333C>T
  hgvsp: ENST00000399355.2:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.333C>T
  hgvsp: ENST00000399367.3:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser111Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

21-35107497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107497
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107497
    reference: chr 21
allele count: 8
allele frequency: 6.594348643212767e-5
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.334G>A
  hgvsp: ENSP00000400079.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.334G>A
  hgvsp: ENSP00000382286.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.334G>A
  hgvsp: ENSP00000369294.5:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.334G>A
  hgvsp: ENSP00000370719.3:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.334G>A
  hgvsp: ENSP00000382292.2:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149010C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.334G>A
  hgvsp: ENSP00000382301.3:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.334G>A
  hgvsp: ENSP00000370691.4:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.152G>A
  hgvsp: ENSP00000411464.1:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.334G>A
  hgvsp: ENSP00000370683.3:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.334G>A
  hgvsp: ENSP00000370685.4:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.334G>A
  hgvsp: ENSP00000382275.4:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.334G>A
  hgvsp: ENSP00000387377.2:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.334G>A
  hgvsp: ENSP00000382290.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.334G>A
  hgvsp: ENSP00000382289.1:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.334G>A
  hgvsp: ENSP00000382265.3:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala112Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-35107509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107509
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107509
    reference: chr 21
allele count: 4
allele frequency: 3.297989875171083e-5
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346G>A
  hgvsp: ENSP00000382275.4:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346G>A
  hgvsp: ENSP00000370685.4:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346G>A
  hgvsp: ENSP00000370719.3:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346G>A
  hgvsp: ENSP00000369294.5:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346G>A
  hgvsp: ENSP00000382290.1:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346G>A
  hgvsp: ENSP00000370691.4:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.164G>A
  hgvsp: ENSP00000411464.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000400079
  ensembl transcript: ENST00000444491
  gene symbol: ITSN1
  hgvsc: ENST00000444491.1:c.346G>A
  hgvsp: ENST00000444491.1:c.346G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149022C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346G>A
  hgvsp: ENSP00000382286.1:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346G>A
  hgvsp: ENSP00000382301.3:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346G>A
  hgvsp: ENSP00000382265.3:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346G>A
  hgvsp: ENSP00000382289.1:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346G>A
  hgvsp: ENSP00000370683.3:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346G>A
  hgvsp: ENSP00000382292.2:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346G>A
  hgvsp: ENSP00000387377.2:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly116Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-35107527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107527
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107527
    reference: chr 21
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.164+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149040A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+18T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

21-35107529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107529
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107529
    reference: chr 21
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.164+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149042C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+20G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

21-35107546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107546
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107546
    reference: chr 21
allele count: 1
allele frequency: 8.554466286848364e-6
allele num: 116898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.164+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149059C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+37G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

21-35107554-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107554
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107553
    reference: chr 21
allele count: 11
allele frequency: 9.791355123549099e-5
allele num: 112344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149068delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.164+50delA
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+50delA
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: TA
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

21-35107555-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107555
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107555
    reference: chr 21
allele count: 1
allele frequency: 8.899330770326072e-6
allele num: 112368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149068T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.164+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+46A>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

21-35107571-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107571
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107570
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 87470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.165-33delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149085delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+69delT
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12322
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: CT
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

21-35107585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107585
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107585
    reference: chr 21
allele count: 3
allele frequency: 4.515352197471403e-5
allele num: 66440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149098G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.165-26C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+76C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16078
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

21-35107586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107586
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107586
    reference: chr 21
allele count: 38
allele frequency: 5.763688760806917e-4
allele num: 65930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.165-25G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149099C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+77G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18274
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16057
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

21-35107595-CATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107595
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107592
    reference: chr 21
allele count: 1
allele frequency: 1.764602082230457e-5
allele num: 56670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149111_287-149109delAAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.165-13_165-11delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+89_346+91delTAT
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CATT
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

21-35107600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107600
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107600
    reference: chr 21
allele count: 1
allele frequency: 1.95160031225605e-5
allele num: 51240
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.165-11T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149113A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+91T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

21-35107608-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107608
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107608
    reference: chr 21
allele count: 1
allele frequency: 2.435341678437485e-5
allele num: 41062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.165-3T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149121A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+99T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.165-3T>C
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

21-35107610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107610
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107610
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 39882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149123C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.165-1G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+101G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18398
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.165-1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/21-35107612-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107612
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107612
    reference: chr 21
allele count: 2
allele frequency: 5.293526017680377e-5
allele num: 37782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149125T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.166A>C
  hgvsp: ENST00000456489.1:c.166A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+103A>C
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17867
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.166A>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

21-35107640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107640
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107640
    reference: chr 21
allele count: 2
allele frequency: 8.851907586084801e-5
allele num: 22594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149153G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+131C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

21-35107645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107645
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107645
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 21738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149158G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+136C>T
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31211
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

21-35107656-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107656
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107656
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 20392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149169A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.*29T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+147T>C
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

21-35107662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35107662
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 35107662
    reference: chr 21
allele count: 1
allele frequency: 5.135579293344289e-5
allele num: 19472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000411464
  ensembl transcript: ENST00000456489
  gene symbol: ITSN1
  hgvsc: ENST00000456489.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382286
  ensembl transcript: ENST00000399349
  gene symbol: ITSN1
  hgvsc: ENST00000399349.1:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382289
  ensembl transcript: ENST00000399352
  gene symbol: ITSN1
  hgvsc: ENST00000399352.1:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382301
  ensembl transcript: ENST00000399367
  gene symbol: ITSN1
  hgvsc: ENST00000399367.3:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249209
  ensembl protein: ENSP00000394107
  ensembl transcript: ENST00000429238
  gene symbol: AP000304.12
  hgvsc: ENST00000429238.1:c.287-149175C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382290
  ensembl transcript: ENST00000399353
  gene symbol: ITSN1
  hgvsc: ENST00000399353.1:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382292
  ensembl transcript: ENST00000399355
  gene symbol: ITSN1
  hgvsc: ENST00000399355.2:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382265
  ensembl transcript: ENST00000399326
  gene symbol: ITSN1
  hgvsc: ENST00000399326.3:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370719
  ensembl transcript: ENST00000381318
  gene symbol: ITSN1
  hgvsc: ENST00000381318.3:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370691
  ensembl transcript: ENST00000381291
  gene symbol: ITSN1
  hgvsc: ENST00000381291.4:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000369294
  ensembl transcript: ENST00000379960
  gene symbol: ITSN1
  hgvsc: ENST00000379960.5:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370683
  ensembl transcript: ENST00000381283
  gene symbol: ITSN1
  hgvsc: ENST00000381283.3:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000370685
  ensembl transcript: ENST00000381285
  gene symbol: ITSN1
  hgvsc: ENST00000381285.4:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000382275
  ensembl transcript: ENST00000399338
  gene symbol: ITSN1
  hgvsc: ENST00000399338.4:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000205726
  ensembl protein: ENSP00000387377
  ensembl transcript: ENST00000437442
  gene symbol: ITSN1
  hgvsc: ENST00000437442.2:c.346+153G>A
  variant of: http://identifiers.org/hgnc/6183
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 434
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3392
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2079
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1867
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1125
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19890
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 746
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 721
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 839
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36564
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.169792694965449e-5
allele num: 16208
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63660
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.58e-1

FS
type: SiteQuality
SIO_000300: 7.823e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.068e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

DP
type: SiteQuality
SIO_000300: 1.845467e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeDepth
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1865
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8419
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19087
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1107
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 747
bin: 5.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3394
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2062
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 840
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38046
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2319
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555355087566491e-5
allele num: 64294
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.686e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

FS
type: SiteQuality
SIO_000300: 2.814e0

DP
type: SiteQuality
SIO_000300: 1.855946e6

MQRankSum
type: SiteQuality
SIO_000300: -1.042e0

QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.755e0

GenotypeDepth
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1107
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 522
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8407
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 751
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1865
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1125
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 217
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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
all individuals: 38284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5535669898086e-5
allele num: 64368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.857257e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

GenotypeDepth
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19512
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1552
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 92
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variant carriers: 0

GenotypeDepth
all individuals: 660
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1109
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variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 434
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 77
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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: 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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bin: 9.75e1
variant carriers: 1

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: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2438
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.154603643525357e-5
allele num: 16248
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.744e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.113e0

QD
type: SiteQuality
SIO_000300: 1.227e1

FS
type: SiteQuality
SIO_000300: 5.816e0

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

DP
type: SiteQuality
SIO_000300: 1.861556e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

GenotypeDepth
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bin: 5.25e1
variant carriers: 1

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
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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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552264754276489e-5
allele num: 64422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16294835449279e-5
allele num: 16226
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.411e0

QD
type: SiteQuality
SIO_000300: 1.021e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

DP
type: SiteQuality
SIO_000300: 1.858653e6

GenotypeDepth
all individuals: 8354
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 434
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variant carriers: 0

GenotypeDepth
all individuals: 100
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variant carriers: 0

GenotypeDepth
all individuals: 3386
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variant carriers: 0

GenotypeDepth
all individuals: 471
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variant carriers: 0

GenotypeDepth
all individuals: 522
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variant carriers: 0

GenotypeDepth
all individuals: 92
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variant carriers: 0

GenotypeDepth
all individuals: 745
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variant carriers: 0

GenotypeDepth
all individuals: 99
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variant carriers: 0

GenotypeDepth
all individuals: 2010
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variant carriers: 0

GenotypeDepth
all individuals: 20077
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variant carriers: 0

GenotypeDepth
all individuals: 216
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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East Asian
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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QD
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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Latino
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East Asian
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South Asian
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 63646
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European (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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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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Other
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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Other
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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QD
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MQRankSum
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FS
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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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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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African
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Other
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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FS
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DP
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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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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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East Asian
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VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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DP
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MQRankSum
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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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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Other
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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QD
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeQuality
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Other
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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QD
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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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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European (Finnish)
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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African
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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MQ
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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MQRankSum
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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Other
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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Other
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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QD
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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Other
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African
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South Asian
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European (Non-Finnish)
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VQSLOD
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SIO_000300: -5.0e-4

InbreedingCoeff
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SIO_000300: 1.06e-2

FS
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SIO_000300: 2.148e0

MQRankSum
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SIO_000300: -1.272e0

ClippingRankSum
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MQ
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SIO_000300: 5.963e1

BaseQRankSum
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SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.379e1

DP
type: SiteQuality
SIO_000300: 1.726762e6

ReadPosRankSum
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SIO_000300: -6.879999999999999e-1

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

East Asian
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allele count: 36
allele frequency: 4.193849021435228e-3
allele num: 8584
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12522
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

ClippingRankSum
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SIO_000300: -2.62e-1

MQRankSum
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SIO_000300: 2.7e-2

InbreedingCoeff
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MQ
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SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 7.14e-1

DP
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SIO_000300: 1.732783e6

VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 4.32e-1

BaseQRankSum
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SIO_000300: -3.627e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65314
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 7.8e-3

VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -8.95e-1

MQ
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SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 2.21e0

DP
type: SiteQuality
SIO_000300: 1.7358e6

QD
type: SiteQuality
SIO_000300: 1.286e1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.101473220432328e-3
allele num: 14526
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.060973392326807e-5
allele num: 65996
num of homozygotes: 0

Latino
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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

African
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Other
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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

QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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DP
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11560
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South Asian
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East Asian
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BaseQRankSum
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VQSLOD
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FS
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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FS
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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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QD
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ClippingRankSum
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DP
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MQ
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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MQRankSum
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QD
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MQ
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ClippingRankSum
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FS
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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ClippingRankSum
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MQ
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FS
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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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ReadPosRankSum
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QD
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GenotypeQuality
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East Asian
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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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DP
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BaseQRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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South Asian
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African
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East Asian
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European (Finnish)
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MQ
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DP
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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GenotypeDepth
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variant carriers: 69

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

European (Finnish)
type: Population
allele count: 18
allele frequency: 2.722323049001815e-3
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 87
allele frequency: 1.304113203021945e-3
allele num: 66712
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
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SIO_000300: -1.544e0

DP
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SIO_000300: 1.81246e6

QD
type: SiteQuality
SIO_000300: 1.062e1

VQSLOD
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SIO_000300: 5.01e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
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SIO_000300: -2.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 268
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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
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num of homozygotes: 0

Other
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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: -1.0e-4

MQ
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SIO_000300: 6.074e1

ReadPosRankSum
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SIO_000300: 9.5e-2

ClippingRankSum
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SIO_000300: -2.05e-1

FS
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SIO_000300: 2.317e0

QD
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BaseQRankSum
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SIO_000300: -2.261e0

MQRankSum
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SIO_000300: 1.15e0

VQSLOD
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SIO_000300: 3.32e0

DP
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SIO_000300: 1.802406e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

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

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

Other
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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: 6612
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: -2.28e-1

QD
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SIO_000300: 1.04e1

MQ
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SIO_000300: 5.947e1

ReadPosRankSum
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SIO_000300: 1.21e0

MQRankSum
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SIO_000300: -8.65e-1

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.802415e6

BaseQRankSum
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SIO_000300: -1.517e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -9.88e-1

FS
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: 8.64e-1

VQSLOD
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SIO_000300: -8.294e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

Other
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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: 66706
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 2.55e-1

MQ
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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 1.23e-2

FS
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ReadPosRankSum
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SIO_000300: 1.44e-1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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African
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 66704
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East Asian
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.85112409275978e-5
allele num: 11298
num of homozygotes: 0

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

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

East Asian
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allele 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
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num of homozygotes: 0

MQRankSum
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DP
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.8e-3

MQ
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QD
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13828
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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Other
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 8.765778401122019e-5
allele num: 34224
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4210
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 2.37e0

MQRankSum
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SIO_000300: -7.099999999999999e-2

ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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MQ
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FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.525e1

InbreedingCoeff
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SIO_000300: -1.91e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 4
allele frequency: 3.26211058554885e-4
allele num: 12262
num of homozygotes: 0

European (Non-Finnish)
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allele count: 32
allele frequency: 9.45291267871913e-4
allele num: 33852
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 4.761904761904762e-4
allele num: 4200
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InbreedingCoeff
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SIO_000300: -2.02e-2

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

African
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Other
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East Asian
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Latino
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European (Finnish)
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South Asian
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 10340
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Other
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European (Finnish)
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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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allele frequency: 0.0e0
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Latino
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ClippingRankSum
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SIO_000300: 3.9e-2

VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

Other
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Latino
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African
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East Asian
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South Asian
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European (Finnish)
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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South Asian
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allele num: 10102
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East Asian
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Latino
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European (Finnish)
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ReadPosRankSum
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SIO_000300: 7.36e-1

FS
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ClippingRankSum
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MQRankSum
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DP
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QD
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InbreedingCoeff
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SIO_000300: -4.22e-2

VQSLOD
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -7.36e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 8892
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African
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European (Finnish)
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Latino
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Other
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South Asian
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East Asian
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InbreedingCoeff
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FS
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QD
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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East Asian
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South Asian
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Other
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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African
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Latino
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European (Non-Finnish)
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FS
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DP
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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