2-201284184-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284184
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284184
    reference: chr 2
allele count: 4
allele frequency: 3.365303718660609e-5
allele num: 118860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.410T>C
  hgvsp: ENSP00000386336.1:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.500T>C
  hgvsp: ENSP00000387333.3:p.Leu167Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.410T>C
  hgvsp: ENSP00000353989.5:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.410T>C
  hgvsp: ENSP00000402559.1:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.410T>C
  hgvsp: ENSP00000390506.1:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000396109
  ensembl transcript: ENST00000423749
  gene symbol: SPATS2L
  hgvsc: ENST00000423749.1:c.410T>C
  hgvsp: ENSP00000396109.1:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.410T>C
  hgvsp: ENSP00000386730.3:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.230T>C
  hgvsp: ENSP00000386391.1:p.Leu77Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.410T>C
  hgvsp: ENSP00000389908.1:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.410T>C
  hgvsp: ENSP00000391467.2:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.410T>C
  hgvsp: ENSP00000351503.4:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.395T>C
  hgvsp: ENSP00000413648.1:p.Leu132Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.410T>C
  hgvsp: ENSP00000386931.3:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.434T>C
  hgvsp: ENSP00000386310.1:p.Leu145Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.410T>C
  hgvsp: ENSP00000386600.2:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.410T>C
  hgvsp: ENSP00000413142.1:p.Leu137Pro
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu137Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-201284192-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284192
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284192
    reference: chr 2
allele count: 1
allele frequency: 8.420201748033883e-6
allele num: 118762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.418C>A
  hgvsp: ENSP00000389908.1:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.418C>A
  hgvsp: ENSP00000386600.2:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.508C>A
  hgvsp: ENSP00000387333.3:p.Pro170Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.418C>A
  hgvsp: ENSP00000390506.1:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.418C>A
  hgvsp: ENSP00000391467.2:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.418C>A
  hgvsp: ENSP00000386730.3:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.403C>A
  hgvsp: ENSP00000413648.1:p.Pro135Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.418C>A
  hgvsp: ENSP00000386336.1:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.442C>A
  hgvsp: ENSP00000386310.1:p.Pro148Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.418C>A
  hgvsp: ENSP00000353989.5:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.418C>A
  hgvsp: ENSP00000351503.4:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.418C>A
  hgvsp: ENSP00000413142.1:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000396109
  ensembl transcript: ENST00000423749
  gene symbol: SPATS2L
  hgvsc: ENST00000423749.1:c.418C>A
  hgvsp: ENST00000423749.1:c.418C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.418C>A
  hgvsp: ENSP00000386931.3:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.238C>A
  hgvsp: ENSP00000386391.1:p.Pro80Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.418C>A
  hgvsp: ENSP00000402559.1:p.Pro140Thr
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro140Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-201284192-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284192
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284192
    reference: chr 2
allele count: 1
allele frequency: 8.420201748033883e-6
allele num: 118762
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.418C>G
  hgvsp: ENSP00000351503.4:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.418C>G
  hgvsp: ENSP00000391467.2:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.418C>G
  hgvsp: ENSP00000386730.3:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.403C>G
  hgvsp: ENSP00000413648.1:p.Pro135Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.418C>G
  hgvsp: ENSP00000353989.5:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.508C>G
  hgvsp: ENSP00000387333.3:p.Pro170Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.418C>G
  hgvsp: ENSP00000390506.1:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.418C>G
  hgvsp: ENSP00000413142.1:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.442C>G
  hgvsp: ENSP00000386310.1:p.Pro148Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.418C>G
  hgvsp: ENSP00000386931.3:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.418C>G
  hgvsp: ENSP00000389908.1:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000396109
  ensembl transcript: ENST00000423749
  gene symbol: SPATS2L
  hgvsc: ENST00000423749.1:c.418C>G
  hgvsp: ENST00000423749.1:c.418C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.418C>G
  hgvsp: ENSP00000402559.1:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.418C>G
  hgvsp: ENSP00000386600.2:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.238C>G
  hgvsp: ENSP00000386391.1:p.Pro80Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.418C>G
  hgvsp: ENSP00000386336.1:p.Pro140Ala
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro140Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-201284202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284202
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284202
    reference: chr 2
allele count: 1
allele frequency: 8.43981567442567e-6
allele num: 118486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.452C>T
  hgvsp: ENSP00000386310.1:p.Ala151Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.428C>T
  hgvsp: ENSP00000386336.1:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.413C>T
  hgvsp: ENSP00000413648.1:p.Ala138Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.428C>T
  hgvsp: ENSP00000390506.1:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.428C>T
  hgvsp: ENSP00000353989.5:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.428C>T
  hgvsp: ENSP00000402559.1:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.428C>T
  hgvsp: ENSP00000391467.2:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.428C>T
  hgvsp: ENSP00000386600.2:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.428C>T
  hgvsp: ENSP00000389908.1:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.428C>T
  hgvsp: ENSP00000386931.3:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.248C>T
  hgvsp: ENSP00000386391.1:p.Ala83Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.518C>T
  hgvsp: ENSP00000387333.3:p.Ala173Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.428C>T
  hgvsp: ENSP00000386730.3:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.428C>T
  hgvsp: ENSP00000351503.4:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.428C>T
  hgvsp: ENSP00000413142.1:p.Ala143Val
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala143Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

2-201284207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284207
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284207
    reference: chr 2
allele count: 4
allele frequency: 3.381863068364362e-5
allele num: 118278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.433C>T
  hgvsp: ENSP00000386931.3:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.418C>T
  hgvsp: ENSP00000413648.1:p.Arg140Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.433C>T
  hgvsp: ENSP00000391467.2:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.433C>T
  hgvsp: ENSP00000390506.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.523C>T
  hgvsp: ENSP00000387333.3:p.Arg175Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.433C>T
  hgvsp: ENSP00000353989.5:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.433C>T
  hgvsp: ENSP00000386730.3:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.457C>T
  hgvsp: ENSP00000386310.1:p.Arg153Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.433C>T
  hgvsp: ENSP00000351503.4:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.433C>T
  hgvsp: ENSP00000389908.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.253C>T
  hgvsp: ENSP00000386391.1:p.Arg85Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.433C>T
  hgvsp: ENSP00000386336.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.433C>T
  hgvsp: ENSP00000386600.2:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.433C>T
  hgvsp: ENSP00000413142.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.433C>T
  hgvsp: ENSP00000402559.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg145Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-201284208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284208
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284208
    reference: chr 2
allele count: 1
allele frequency: 8.454657670910904e-6
allele num: 118278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.434G>A
  hgvsp: ENSP00000391467.2:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.434G>A
  hgvsp: ENSP00000386600.2:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.434G>A
  hgvsp: ENSP00000386931.3:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.434G>A
  hgvsp: ENSP00000389908.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.524G>A
  hgvsp: ENSP00000387333.3:p.Arg175His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.419G>A
  hgvsp: ENSP00000413648.1:p.Arg140His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.434G>A
  hgvsp: ENSP00000386730.3:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.434G>A
  hgvsp: ENSP00000386336.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.434G>A
  hgvsp: ENSP00000390506.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.458G>A
  hgvsp: ENSP00000386310.1:p.Arg153His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.434G>A
  hgvsp: ENSP00000351503.4:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.254G>A
  hgvsp: ENSP00000386391.1:p.Arg85His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.434G>A
  hgvsp: ENSP00000402559.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.434G>A
  hgvsp: ENSP00000413142.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.434G>A
  hgvsp: ENSP00000353989.5:p.Arg145His
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg145His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-201284218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284218
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284218
    reference: chr 2
allele count: 1
allele frequency: 8.49689863199932e-6
allele num: 117690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.264A>G
  hgvsp: ENST00000409385.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.429A>G
  hgvsp: ENST00000438761.1:c.429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.444A>G
  hgvsp: ENST00000421573.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.444A>G
  hgvsp: ENST00000453663.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.444A>G
  hgvsp: ENST00000457757.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.444A>G
  hgvsp: ENST00000360760.5:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.444A>G
  hgvsp: ENST00000409988.3:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.444A>G
  hgvsp: ENST00000409140.3:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.444A>G
  hgvsp: ENST00000451764.2:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.444A>G
  hgvsp: ENST00000449647.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.468A>G
  hgvsp: ENST00000409151.1:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.444A>G
  hgvsp: ENST00000409718.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.444A>G
  hgvsp: ENST00000409397.2:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.444A>G
  hgvsp: ENST00000358677.5:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.534A>G
  hgvsp: ENST00000409755.3:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.444A>G
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-201284232-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284232
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284232
    reference: chr 2
allele count: 2
allele frequency: 1.714148582399122e-5
allele num: 116676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.469+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.535+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.265+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.445+13T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.430+13T>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-201284245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284245
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284245
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 116158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.469+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.535+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.265+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.430+26T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.445+26T>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-201284259-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284259
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284259
    reference: chr 2
allele count: 5
allele frequency: 4.330279043181543e-5
allele num: 115466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.430+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.469+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.265+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.535+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.445+40A>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-201284268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201284268
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201284268
    reference: chr 2
allele count: 1
allele frequency: 8.712926497752064e-6
allele num: 114772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.265+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.535+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.469+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.430+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.445+49G>A
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-201303805-GTTTATC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303799
    reference: chr 2
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-39_470-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-39_446-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-39_446-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-39_446-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-39_536-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-39_446-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-39_446-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-39_266-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-39_446-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-39_446-34delTTTATC
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: GTTTATC
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-201303807-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303807
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303807
    reference: chr 2
allele count: 1
allele frequency: 8.375209380234507e-6
allele num: 119400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-38T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-38T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1565T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1565T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1565T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1565T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-38T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1565T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-38T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-38T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-38T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-38T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-38T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-38T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-38T>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-201303812-A-AGAGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303812
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303817
    reference: chr 2
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: AGAGAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-33_266-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-33_446-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-33_446-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-33_446-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1560_446-1559insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-33_470-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1560_446-1559insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-33_446-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-33_446-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1560_446-1559insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1560_431-1559insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-33_446-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1560_446-1559insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-33_446-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-33_536-32insGAGAG
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-201303813-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303813
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303811
    reference: chr 2
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-31_446-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1558_446-1557delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-31_446-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-31_446-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-31_536-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-31_446-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-31_446-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1558_446-1557delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-31_470-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-31_266-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1558_446-1557delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-31_446-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-31_446-30delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1558_431-1557delTT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1558_446-1557delTT
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: CTT
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-201303816-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303816
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303816
    reference: chr 2
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-29C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1556C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-29C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-29C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1556C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1556C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1556C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-29C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-29C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-29C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-29C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-29C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1556C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-29C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-29C>A
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-201303817-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303817
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303818
    reference: chr 2
allele count: 1
allele frequency: 8.351009637065121e-6
allele num: 119746
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1555_446-1554insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-28_446-27insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-28_536-27insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-28_446-27insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1555_446-1554insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-28_446-27insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-28_446-27insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-28_446-27insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1555_446-1554insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1555_446-1554insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-28_446-27insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-28_446-27insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1555_431-1554insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-28_470-27insG
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-28_266-27insG
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

2-201303820-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303820
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303819
    reference: chr 2
allele count: 1
allele frequency: 8.343623802689983e-6
allele num: 119852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1551delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1551delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1551delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1551delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-24delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1551delT
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: GT
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

2-201303823-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303823
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303823
    reference: chr 2
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1549A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-22A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1549A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-22A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-22A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-22A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-22A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-22A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-22A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-22A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1549A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1549A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1549A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-22A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-22A>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25443
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-201303823-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303823
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303822
    reference: chr 2
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-20delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-20delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1547delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1547delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-20delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-20delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1547delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-20delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-20delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1547delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1547delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-20delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-20delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-20delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-20delT
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: AT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-201303825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303825
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303825
    reference: chr 2
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-20T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-20T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1547T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-20T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-20T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-20T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1547T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-20T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1547T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-20T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1547T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1547T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-20T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-20T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-20T>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-201303827-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303827
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303827
    reference: chr 2
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1545T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-18T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-18T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-18T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-18T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-18T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1545T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1545T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1545T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-18T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-18T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-18T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1545T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-18T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-18T>A
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-201303828-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303828
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303828
    reference: chr 2
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-17T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1544T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-17T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-17T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-17T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-17T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1544T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-17T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-17T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1544T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-17T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1544T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-17T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1544T>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-17T>A
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-201303833-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303833
    reference: chr 2
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.470-12G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1539G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.446-12G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.446-12G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.446-12G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1539G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.446-12G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.266-12G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1539G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1539G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.446-12G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.446-12G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.536-12G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1539G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.446-12G>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

2-201303836-TTCTTACAGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303836
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303827
    reference: chr 2
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.446-8_446delTCTTACAGA
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: TTCTTACAGA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-201303848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303848
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303848
    reference: chr 2
allele count: 328
allele frequency: 2.724252491694352e-3
allele num: 120400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1524G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.449G>A
  hgvsp: ENSP00000391467.2:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.449G>A
  hgvsp: ENSP00000351503.4:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.449G>A
  hgvsp: ENSP00000386336.1:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.269G>A
  hgvsp: ENSP00000386391.1:p.Gly90Asp
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.449G>A
  hgvsp: ENSP00000389908.1:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.449G>A
  hgvsp: ENSP00000402559.1:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.539G>A
  hgvsp: ENSP00000387333.3:p.Gly180Asp
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1524G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1524G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.473G>A
  hgvsp: ENSP00000386310.1:p.Gly158Asp
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.449G>A
  hgvsp: ENSP00000386931.3:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1524G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1524G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.449G>A
  hgvsp: ENSP00000386730.3:p.Gly150Asp
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 21995
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly150Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-201303856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303856
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303856
    reference: chr 2
allele count: 6
allele frequency: 4.981071926678621e-5
allele num: 120456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.457C>T
  hgvsp: ENST00000409718.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1516C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.457C>T
  hgvsp: ENST00000457757.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.457C>T
  hgvsp: ENST00000421573.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.277C>T
  hgvsp: ENST00000409385.1:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1516C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1516C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1516C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.547C>T
  hgvsp: ENST00000409755.3:c.547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.481C>T
  hgvsp: ENST00000409151.1:c.481C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.457C>T
  hgvsp: ENST00000451764.2:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.457C>T
  hgvsp: ENST00000409988.3:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.457C>T
  hgvsp: ENST00000409140.3:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.457C>T
  hgvsp: ENST00000358677.5:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1516C>T
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu153Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

2-201303857-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303857
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303857
    reference: chr 2
allele count: 1
allele frequency: 8.301510874979247e-6
allele num: 120460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.548T>G
  hgvsp: ENSP00000387333.3:p.Leu183Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.458T>G
  hgvsp: ENSP00000351503.4:p.Leu153Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.458T>G
  hgvsp: ENSP00000386336.1:p.Leu153Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.458T>G
  hgvsp: ENSP00000391467.2:p.Leu153Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000402559
  ensembl transcript: ENST00000421573
  gene symbol: SPATS2L
  hgvsc: ENST00000421573.1:c.458T>G
  hgvsp: ENSP00000402559.1:p.Leu153Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1515T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.458T>G
  hgvsp: ENSP00000389908.1:p.Leu153Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.482T>G
  hgvsp: ENSP00000386310.1:p.Leu161Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.278T>G
  hgvsp: ENSP00000386391.1:p.Leu93Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.458T>G
  hgvsp: ENSP00000386730.3:p.Leu153Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1515T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1515T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1515T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.458T>G
  hgvsp: ENSP00000386931.3:p.Leu153Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1515T>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu153Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

2-201303867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303867
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303867
    reference: chr 2
allele count: 5
allele frequency: 4.149170995635072e-5
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1505G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.468G>A
  hgvsp: ENST00000409140.3:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.558G>A
  hgvsp: ENST00000409755.3:c.558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1505G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.468G>A
  hgvsp: ENST00000457757.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1505G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.468G>A
  hgvsp: ENST00000409718.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.288G>A
  hgvsp: ENST00000409385.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.468G>A
  hgvsp: ENST00000358677.5:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.468G>A
  hgvsp: ENST00000451764.2:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1505G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.468G>A
  hgvsp: ENST00000409988.3:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1505G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.492G>A
  hgvsp: ENST00000409151.1:c.492G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln156Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

2-201303872-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303872
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303872
    reference: chr 2
allele count: 4
allele frequency: 3.318785988085559e-5
allele num: 120526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1500T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.293T>C
  hgvsp: ENSP00000386391.1:p.Leu98Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.473T>C
  hgvsp: ENSP00000386730.3:p.Leu158Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.497T>C
  hgvsp: ENSP00000386310.1:p.Leu166Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.473T>C
  hgvsp: ENSP00000386336.1:p.Leu158Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.473T>C
  hgvsp: ENSP00000351503.4:p.Leu158Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.473T>C
  hgvsp: ENSP00000386931.3:p.Leu158Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1500T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.563T>C
  hgvsp: ENSP00000387333.3:p.Leu188Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.473T>C
  hgvsp: ENSP00000389908.1:p.Leu158Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.473T>C
  hgvsp: ENSP00000391467.2:p.Leu158Pro
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1500T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1500T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1500T>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu158Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum

2-201303893-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303893
    reference: chr 2
allele count: 3
allele frequency: 2.488263689597399e-5
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.518A>T
  hgvsp: ENSP00000386310.1:p.Lys173Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.494A>T
  hgvsp: ENSP00000351503.4:p.Lys165Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.494A>T
  hgvsp: ENSP00000386931.3:p.Lys165Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.494A>T
  hgvsp: ENSP00000386336.1:p.Lys165Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.584A>T
  hgvsp: ENSP00000387333.3:p.Lys195Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.494A>T
  hgvsp: ENSP00000389908.1:p.Lys165Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.314A>T
  hgvsp: ENSP00000386391.1:p.Lys105Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1479A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.494A>T
  hgvsp: ENSP00000386730.3:p.Lys165Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1479A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1479A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1479A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.494A>T
  hgvsp: ENSP00000391467.2:p.Lys165Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1479A>T
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys165Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-201303893-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303893
    reference: chr 2
allele count: 2
allele frequency: 1.658842459731599e-5
allele num: 120566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1479A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.494A>G
  hgvsp: ENSP00000351503.4:p.Lys165Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.494A>G
  hgvsp: ENSP00000389908.1:p.Lys165Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.494A>G
  hgvsp: ENSP00000386730.3:p.Lys165Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.494A>G
  hgvsp: ENSP00000386931.3:p.Lys165Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.314A>G
  hgvsp: ENSP00000386391.1:p.Lys105Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.494A>G
  hgvsp: ENSP00000386336.1:p.Lys165Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.518A>G
  hgvsp: ENSP00000386310.1:p.Lys173Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1479A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.494A>G
  hgvsp: ENSP00000391467.2:p.Lys165Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1479A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1479A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.584A>G
  hgvsp: ENSP00000387333.3:p.Lys195Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1479A>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys165Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-201303894-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303894
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303894
    reference: chr 2
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.315A>C
  hgvsp: ENSP00000386391.1:p.Lys105Asn
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.495A>C
  hgvsp: ENSP00000386336.1:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.495A>C
  hgvsp: ENSP00000389908.1:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1478A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.585A>C
  hgvsp: ENSP00000387333.3:p.Lys195Asn
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.495A>C
  hgvsp: ENSP00000351503.4:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.519A>C
  hgvsp: ENSP00000386310.1:p.Lys173Asn
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.495A>C
  hgvsp: ENSP00000386931.3:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1478A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1478A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.495A>C
  hgvsp: ENSP00000391467.2:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.495A>C
  hgvsp: ENSP00000386730.3:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1478A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1478A>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys165Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

2-201303905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303905
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303905
    reference: chr 2
allele count: 2
allele frequency: 1.658869977771142e-5
allele num: 120564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.506G>A
  hgvsp: ENSP00000386730.3:p.Gly169Glu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1467G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.596G>A
  hgvsp: ENSP00000387333.3:p.Gly199Glu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.326G>A
  hgvsp: ENSP00000386391.1:p.Gly109Glu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1467G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1467G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.506G>A
  hgvsp: ENSP00000391467.2:p.Gly169Glu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.506G>A
  hgvsp: ENSP00000386336.1:p.Gly169Glu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1467G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.506G>A
  hgvsp: ENSP00000389908.1:p.Gly169Glu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1467G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.506G>A
  hgvsp: ENSP00000351503.4:p.Gly169Glu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.530G>A
  hgvsp: ENSP00000386310.1:p.Gly177Glu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.506G>A
  hgvsp: ENSP00000386931.3:p.Gly169Glu
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly169Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-201303917-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303917
    reference: chr 2
allele count: 2
allele frequency: 1.658869977771142e-5
allele num: 120564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1455G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.518G>C
  hgvsp: ENSP00000389908.1:p.Arg173Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.608G>C
  hgvsp: ENSP00000387333.3:p.Arg203Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.518G>C
  hgvsp: ENSP00000351503.4:p.Arg173Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.518G>C
  hgvsp: ENSP00000386931.3:p.Arg173Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.518G>C
  hgvsp: ENSP00000391467.2:p.Arg173Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1455G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1455G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.518G>C
  hgvsp: ENSP00000386336.1:p.Arg173Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.338G>C
  hgvsp: ENSP00000386391.1:p.Arg113Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.518G>C
  hgvsp: ENSP00000386730.3:p.Arg173Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1455G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.542G>C
  hgvsp: ENSP00000386310.1:p.Arg181Thr
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1455G>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg173Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-201303925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303925
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303925
    reference: chr 2
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1447G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.526G>A
  hgvsp: ENSP00000351503.4:p.Gly176Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.346G>A
  hgvsp: ENSP00000386391.1:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1447G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1447G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1447G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.526G>A
  hgvsp: ENSP00000391467.2:p.Gly176Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.526G>A
  hgvsp: ENSP00000386336.1:p.Gly176Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.526G>A
  hgvsp: ENSP00000389908.1:p.Gly176Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.526G>A
  hgvsp: ENSP00000386931.3:p.Gly176Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.550G>A
  hgvsp: ENSP00000386310.1:p.Gly184Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.526G>A
  hgvsp: ENSP00000386730.3:p.Gly176Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.616G>A
  hgvsp: ENSP00000387333.3:p.Gly206Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1447G>A
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly176Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-201303932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303932
    reference: chr 2
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.353A>G
  hgvsp: ENSP00000386391.1:p.Gln118Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1440A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1440A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.533A>G
  hgvsp: ENSP00000351503.4:p.Gln178Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1440A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.623A>G
  hgvsp: ENSP00000387333.3:p.Gln208Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.557A>G
  hgvsp: ENSP00000386310.1:p.Gln186Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1440A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.533A>G
  hgvsp: ENSP00000389908.1:p.Gln178Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.533A>G
  hgvsp: ENSP00000386336.1:p.Gln178Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.533A>G
  hgvsp: ENSP00000391467.2:p.Gln178Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.533A>G
  hgvsp: ENSP00000386730.3:p.Gln178Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.533A>G
  hgvsp: ENSP00000386931.3:p.Gln178Arg
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1440A>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln178Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

2-201303933-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303933
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303933
    reference: chr 2
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.558G>C
  hgvsp: ENSP00000386310.1:p.Gln186His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.534G>C
  hgvsp: ENSP00000391467.2:p.Gln178His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1439G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.534G>C
  hgvsp: ENSP00000389908.1:p.Gln178His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.534G>C
  hgvsp: ENSP00000386730.3:p.Gln178His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1439G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.534G>C
  hgvsp: ENSP00000351503.4:p.Gln178His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.534G>C
  hgvsp: ENSP00000386336.1:p.Gln178His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1439G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.354G>C
  hgvsp: ENSP00000386391.1:p.Gln118His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1439G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1439G>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.624G>C
  hgvsp: ENSP00000387333.3:p.Gln208His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.534G>C
  hgvsp: ENSP00000386931.3:p.Gln178His
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln178His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-201303944-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303944
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303944
    reference: chr 2
allele count: 2
allele frequency: 1.659062629614268e-5
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.545A>C
  hgvsp: ENSP00000386931.3:p.Glu182Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.635A>C
  hgvsp: ENSP00000387333.3:p.Glu212Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.545A>C
  hgvsp: ENSP00000351503.4:p.Glu182Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.545A>C
  hgvsp: ENSP00000386730.3:p.Glu182Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.365A>C
  hgvsp: ENSP00000386391.1:p.Glu122Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1428A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1428A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1428A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.545A>C
  hgvsp: ENSP00000386336.1:p.Glu182Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.569A>C
  hgvsp: ENSP00000386310.1:p.Glu190Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.545A>C
  hgvsp: ENSP00000389908.1:p.Glu182Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.545A>C
  hgvsp: ENSP00000391467.2:p.Glu182Ala
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1428A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1428A>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu182Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-201303950-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303950
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303950
    reference: chr 2
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000389908
  ensembl transcript: ENST00000457757
  gene symbol: SPATS2L
  hgvsc: ENST00000457757.1:c.551C>A
  hgvsp: ENSP00000389908.1:p.Pro184His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1422C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.575C>A
  hgvsp: ENSP00000386310.1:p.Pro192His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1422C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1422C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.371C>A
  hgvsp: ENSP00000386391.1:p.Pro124His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.551C>A
  hgvsp: ENSP00000386730.3:p.Pro184His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.551C>A
  hgvsp: ENSP00000386336.1:p.Pro184His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.551C>A
  hgvsp: ENSP00000391467.2:p.Pro184His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.551C>A
  hgvsp: ENSP00000351503.4:p.Pro184His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1422C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.641C>A
  hgvsp: ENSP00000387333.3:p.Pro214His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.551C>A
  hgvsp: ENSP00000386931.3:p.Pro184His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1422C>A
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro184His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-201303969-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303969
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303969
    reference: chr 2
allele count: 2
allele frequency: 1.659943893896386e-5
allele num: 120486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.570T>C
  hgvsp: ENST00000409140.3:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.570T>C
  hgvsp: ENST00000451764.2:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1403T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.570T>C
  hgvsp: ENST00000409988.3:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.570T>C
  hgvsp: ENST00000409718.1:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.660T>C
  hgvsp: ENST00000409755.3:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.594T>C
  hgvsp: ENST00000409151.1:c.594T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.570T>C
  hgvsp: ENST00000358677.5:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.390T>C
  hgvsp: ENST00000409385.1:c.390T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1403T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1403T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1403T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1403T>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro190Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-201303970-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303970
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303970
    reference: chr 2
allele count: 1
allele frequency: 8.300132802124834e-6
allele num: 120480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.391A>C
  hgvsp: ENSP00000386391.1:p.Lys131Gln
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.571A>C
  hgvsp: ENSP00000386931.3:p.Lys191Gln
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.571A>C
  hgvsp: ENSP00000351503.4:p.Lys191Gln
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.661A>C
  hgvsp: ENSP00000387333.3:p.Lys221Gln
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1402A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.571A>C
  hgvsp: ENSP00000391467.2:p.Lys191Gln
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.595A>C
  hgvsp: ENSP00000386310.1:p.Lys199Gln
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1402A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.571A>C
  hgvsp: ENSP00000386730.3:p.Lys191Gln
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1402A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.571A>C
  hgvsp: ENSP00000386336.1:p.Lys191Gln
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1402A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1402A>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys191Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

2-201303975-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303975
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303975
    reference: chr 2
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.576A>G
  hgvsp: ENST00000409140.3:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.576A>G
  hgvsp: ENST00000409718.1:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1397A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.600A>G
  hgvsp: ENST00000409151.1:c.600A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.396A>G
  hgvsp: ENST00000409385.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.576A>G
  hgvsp: ENST00000358677.5:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.666A>G
  hgvsp: ENST00000409755.3:c.666A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1397A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1397A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1397A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.576A>G
  hgvsp: ENST00000451764.2:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1397A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.576A>G
  hgvsp: ENST00000409988.3:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala192Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

2-201303980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303980
    reference: chr 2
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.581C>T
  hgvsp: ENSP00000386336.1:p.Thr194Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.581C>T
  hgvsp: ENSP00000351503.4:p.Thr194Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1392C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.671C>T
  hgvsp: ENSP00000387333.3:p.Thr224Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.605C>T
  hgvsp: ENSP00000386310.1:p.Thr202Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.581C>T
  hgvsp: ENSP00000391467.2:p.Thr194Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1392C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.581C>T
  hgvsp: ENSP00000386931.3:p.Thr194Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1392C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1392C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.401C>T
  hgvsp: ENSP00000386391.1:p.Thr134Ile
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1392C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.581C>T
  hgvsp: ENSP00000386730.3:p.Thr194Ile
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr194Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

2-201303981-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303981
    reference: chr 2
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.402A>G
  hgvsp: ENST00000409385.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.672A>G
  hgvsp: ENST00000409755.3:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.582A>G
  hgvsp: ENST00000409988.3:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1391A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.582A>G
  hgvsp: ENST00000409140.3:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.582A>G
  hgvsp: ENST00000409718.1:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.582A>G
  hgvsp: ENST00000358677.5:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1391A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1391A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.606A>G
  hgvsp: ENST00000409151.1:c.606A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1391A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.582A>G
  hgvsp: ENST00000451764.2:c.582A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1391A>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr194Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-201303989-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303989
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303989
    reference: chr 2
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.680T>G
  hgvsp: ENSP00000387333.3:p.Val227Gly
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1383T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.590T>G
  hgvsp: ENSP00000386336.1:p.Val197Gly
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.614T>G
  hgvsp: ENSP00000386310.1:p.Val205Gly
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.590T>G
  hgvsp: ENSP00000386730.3:p.Val197Gly
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1383T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1383T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1383T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.410T>G
  hgvsp: ENSP00000386391.1:p.Val137Gly
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.590T>G
  hgvsp: ENSP00000351503.4:p.Val197Gly
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.590T>G
  hgvsp: ENSP00000391467.2:p.Val197Gly
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.590T>G
  hgvsp: ENSP00000386931.3:p.Val197Gly
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1383T>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val197Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-201303998-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201303998
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201303998
    reference: chr 2
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.419A>G
  hgvsp: ENSP00000386391.1:p.Asn140Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.689A>G
  hgvsp: ENSP00000387333.3:p.Asn230Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1374A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.623A>G
  hgvsp: ENSP00000386310.1:p.Asn208Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.599A>G
  hgvsp: ENSP00000386931.3:p.Asn200Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.599A>G
  hgvsp: ENSP00000391467.2:p.Asn200Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1374A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1374A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.599A>G
  hgvsp: ENSP00000386336.1:p.Asn200Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.599A>G
  hgvsp: ENSP00000351503.4:p.Asn200Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.599A>G
  hgvsp: ENSP00000386730.3:p.Asn200Ser
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1374A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1374A>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn200Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-201304004-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304004
    reference: chr 2
allele count: 217
allele frequency: 1.804753904755568e-3
allele num: 120238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1368C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1368C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1368C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1368C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.605C>A
  hgvsp: ENSP00000386931.3:p.Pro202His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.605C>A
  hgvsp: ENSP00000386730.3:p.Pro202His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.605C>A
  hgvsp: ENSP00000386336.1:p.Pro202His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.695C>A
  hgvsp: ENSP00000387333.3:p.Pro232His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.605C>A
  hgvsp: ENSP00000351503.4:p.Pro202His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1368C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.605C>A
  hgvsp: ENSP00000391467.2:p.Pro202His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.425C>A
  hgvsp: ENSP00000386391.1:p.Pro142His
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.629C>A
  hgvsp: ENSP00000386310.1:p.Pro210His
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 21492
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
hgvs: p.Pro202His
num of homozygotes: 6
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-201304005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304005
    reference: chr 2
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1367T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.606T>C
  hgvsp: ENST00000358677.5:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1367T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1367T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.606T>C
  hgvsp: ENST00000451764.2:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.606T>C
  hgvsp: ENST00000409718.1:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.696T>C
  hgvsp: ENST00000409755.3:c.696T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.630T>C
  hgvsp: ENST00000409151.1:c.630T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.606T>C
  hgvsp: ENST00000409988.3:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.426T>C
  hgvsp: ENST00000409385.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.606T>C
  hgvsp: ENST00000409140.3:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1367T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1367T>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro202Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-201304028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304028
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304028
    reference: chr 2
allele count: 1
allele frequency: 8.369181326682624e-6
allele num: 119486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.449C>T
  hgvsp: ENSP00000386391.1:p.Pro150Leu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.719C>T
  hgvsp: ENSP00000387333.3:p.Pro240Leu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.629C>T
  hgvsp: ENSP00000386336.1:p.Pro210Leu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.629C>T
  hgvsp: ENSP00000351503.4:p.Pro210Leu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1344C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1344C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.629C>T
  hgvsp: ENSP00000386730.3:p.Pro210Leu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.653C>T
  hgvsp: ENSP00000386310.1:p.Pro218Leu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.629C>T
  hgvsp: ENSP00000386931.3:p.Pro210Leu
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1344C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1344C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1344C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.629C>T
  hgvsp: ENSP00000391467.2:p.Pro210Leu
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro210Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-201304038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304038
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304038
    reference: chr 2
allele count: 3
allele frequency: 2.53434031121699e-5
allele num: 118374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.639G>A
  hgvsp: ENST00000409988.3:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1334G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.729G>A
  hgvsp: ENST00000409755.3:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1334G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.639G>A
  hgvsp: ENST00000358677.5:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.639G>A
  hgvsp: ENST00000409718.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1334G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.639G>A
  hgvsp: ENST00000451764.2:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.639G>A
  hgvsp: ENST00000409140.3:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.459G>A
  hgvsp: ENST00000409385.1:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1334G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.663G>A
  hgvsp: ENST00000409151.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1334G>A
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu213Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

2-201304047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304047
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304047
    reference: chr 2
allele count: 1
allele frequency: 8.583543630152271e-6
allele num: 116502
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.648A>G
  hgvsp: ENST00000358677.5:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.468A>G
  hgvsp: ENST00000409385.1:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.648A>G
  hgvsp: ENST00000409988.3:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.738A>G
  hgvsp: ENST00000409755.3:c.738A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.648A>G
  hgvsp: ENST00000409140.3:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.648A>G
  hgvsp: ENST00000409718.1:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1325A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1325A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.672A>G
  hgvsp: ENST00000409151.1:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1325A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1325A>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.648A>G
  hgvsp: ENST00000451764.2:c.648A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1325A>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys216Lys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-201304062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304062
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304062
    reference: chr 2
allele count: 1
allele frequency: 8.936231055190164e-6
allele num: 111904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.742+11T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.676+11T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1310T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1310T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1310T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.472+11T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.652+11T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.652+11T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1310T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.652+11T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.652+11T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.652+11T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1310T>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20568
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-201304063-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304063
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304063
    reference: chr 2
allele count: 1
allele frequency: 8.954796188838742e-6
allele num: 111672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1309T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1309T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.742+12T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.652+12T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1309T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.652+12T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.652+12T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.472+12T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.676+12T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1309T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1309T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.652+12T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.652+12T>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-201304064-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304064
    reference: chr 2
allele count: 8
allele frequency: 7.190364911019235e-5
allele num: 111260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.742+13C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1308C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.652+13C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.472+13C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1308C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.652+13C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1308C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.652+13C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.652+13C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1308C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.652+13C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1308C>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.676+13C>A
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19595
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-201304078-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304078
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304078
    reference: chr 2
allele count: 12
allele frequency: 1.120155328205511e-4
allele num: 107128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1294A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1294A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1294A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.742+27A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.652+27A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.472+27A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.652+27A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.676+27A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.652+27A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1294A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.652+27A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.652+27A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1294A>T
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19348
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-201304083-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304083
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304083
    reference: chr 2
allele count: 1
allele frequency: 9.427736400490242e-6
allele num: 106070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.652+32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.652+32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.676+32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.652+32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1289A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.652+32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.742+32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1289A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.652+32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1289A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1289A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.472+32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1289A>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19834
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

2-201304095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201304095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201304095
    reference: chr 2
allele count: 4
allele frequency: 3.986048829098156e-5
allele num: 100350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.742+44C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.652+44C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.652+44C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.676+44C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.652+44C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-1277C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-1277C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-1277C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.652+44C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.472+44C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-1277C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.652+44C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-1277C>T
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18381
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

2-201305330-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201305330
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201305330
    reference: chr 2
allele count: 10
allele frequency: 8.5525640587048e-5
allele num: 116924
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.653-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.743-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.677-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.653-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.653-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.473-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.653-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.653-42T>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-42T>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16988
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-201305330-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201305330
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201305330
    reference: chr 2
allele count: 1
allele frequency: 8.552564058704799e-6
allele num: 116924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.653-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.473-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.653-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.743-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.653-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.653-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.677-42T>G
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.653-42T>G
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

2-201305336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201305336
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201305336
    reference: chr 2
allele count: 1
allele frequency: 8.549200649739249e-6
allele num: 116970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.677-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.653-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.653-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.653-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.653-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.653-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.473-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.743-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-36G>A
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-36G>A
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

2-201305337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201305337
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201305337
    reference: chr 2
allele count: 34
allele frequency: 2.906430049067378e-4
allele num: 116982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.743-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.653-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.653-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.473-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.653-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.653-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.677-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-35C>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.653-35C>T
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20972
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-201305340-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201305340
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201305340
    reference: chr 2
allele count: 1
allele frequency: 8.527184664711099e-6
allele num: 117272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.653-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.653-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.677-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.653-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.653-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.473-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.653-32A>C
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.743-32A>C
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

2-201305351-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201305351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201305350
    reference: chr 2
allele count: 1
allele frequency: 8.469982382436644e-6
allele num: 118064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.653-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.473-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.653-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.653-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.677-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.653-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.743-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.653-15delT
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-15delT
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: AT
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

2-201305361-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201305361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 201305361
    reference: chr 2
allele count: 1
allele frequency: 8.39390937935434e-6
allele num: 119134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000353989
  ensembl transcript: ENST00000360760
  gene symbol: SPATS2L
  hgvsc: ENST00000360760.5:c.446-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386600
  ensembl transcript: ENST00000409397
  gene symbol: SPATS2L
  hgvsc: ENST00000409397.2:c.446-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386730
  ensembl transcript: ENST00000409140
  gene symbol: SPATS2L
  hgvsc: ENST00000409140.3:c.653-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386310
  ensembl transcript: ENST00000409151
  gene symbol: SPATS2L
  hgvsc: ENST00000409151.1:c.677-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000391467
  ensembl transcript: ENST00000451764
  gene symbol: SPATS2L
  hgvsc: ENST00000451764.2:c.653-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386336
  ensembl transcript: ENST00000409718
  gene symbol: SPATS2L
  hgvsc: ENST00000409718.1:c.653-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000387333
  ensembl transcript: ENST00000409755
  gene symbol: SPATS2L
  hgvsc: ENST00000409755.3:c.743-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000390506
  ensembl transcript: ENST00000453663
  gene symbol: SPATS2L
  hgvsc: ENST00000453663.1:c.446-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386931
  ensembl transcript: ENST00000409988
  gene symbol: SPATS2L
  hgvsc: ENST00000409988.3:c.653-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413648
  ensembl transcript: ENST00000438761
  gene symbol: SPATS2L
  hgvsc: ENST00000438761.1:c.431-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000413142
  ensembl transcript: ENST00000449647
  gene symbol: SPATS2L
  hgvsc: ENST00000449647.1:c.446-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000351503
  ensembl transcript: ENST00000358677
  gene symbol: SPATS2L
  hgvsc: ENST00000358677.5:c.653-11A>T
  variant of: http://identifiers.org/hgnc/24574
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196141
  ensembl protein: ENSP00000386391
  ensembl transcript: ENST00000409385
  gene symbol: SPATS2L
  hgvsc: ENST00000409385.1:c.473-11A>T
  variant of: http://identifiers.org/hgnc/24574
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1023
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 38263
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 613
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 431
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14992
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6016
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.211412929037692e-4
allele num: 9498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 1.431335e6

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeDepth
all individuals: 163
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 915
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 602
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 38042
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3572
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6033
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 234
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 2.444e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

DP
type: SiteQuality
SIO_000300: 1.429599e6

QD
type: SiteQuality
SIO_000300: 1.014e1

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

GenotypeDepth
all individuals: 1135
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
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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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.522487134983709e-5
allele num: 65682
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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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
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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

InbreedingCoeff
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MQ
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SIO_000300: 5.899e1

ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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SIO_000300: -3.15e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.065643648763853e-4
allele num: 9384
num of homozygotes: 0

Latino
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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

VQSLOD
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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SIO_000300: 2.8e-1

MQRankSum
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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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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

Latino
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allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.12294881214793e-5
allele num: 65328
num of homozygotes: 0

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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VQSLOD
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SIO_000300: 1.01e0

ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

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

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: 1
allele frequency: 1.530924678505817e-5
allele num: 65320
num of homozygotes: 0

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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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
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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DP
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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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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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allele count: 1
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allele num: 16246
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MQ
type: SiteQuality
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QD
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DP
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 3.10887272275073e-5
allele num: 64332
num of homozygotes: 0

Latino
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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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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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allele count: 0
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MQ
type: SiteQuality
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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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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Latino
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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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African
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FS
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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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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South Asian
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Latino
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African
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European (Non-Finnish)
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Other
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East Asian
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QD
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DP
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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African
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Latino
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QD
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Finnish)
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African
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QD
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VQSLOD
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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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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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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East Asian
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VQSLOD
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ClippingRankSum
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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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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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South Asian
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DP
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FS
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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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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Latino
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European (Non-Finnish)
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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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DP
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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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ClippingRankSum
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BaseQRankSum
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FS
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QD
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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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South Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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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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VQSLOD
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MQ
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FS
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ClippingRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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Latino
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQ
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QD
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BaseQRankSum
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DP
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GenotypeDepth
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South Asian
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African
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European (Finnish)
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East Asian
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VQSLOD
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FS
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MQ
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QD
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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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bin: 3.75e1
variant carriers: 0

African
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allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11384
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

South Asian
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allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 3.6e-3

BaseQRankSum
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MQRankSum
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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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ClippingRankSum
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SIO_000300: -2.205e0

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

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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

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

ClippingRankSum
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SIO_000300: -1.828e0

QD
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 3.2e-3

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66484
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.022494887525562e-4
allele num: 9780
num of homozygotes: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

MQRankSum
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SIO_000300: -9.176e0

FS
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SIO_000300: 4.0741e1

DP
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VQSLOD
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InbreedingCoeff
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SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.721e1

MQ
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SIO_000300: 5.368e1

ClippingRankSum
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SIO_000300: 8.32e-1

ReadPosRankSum
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SIO_000300: -6.147e0

BaseQRankSum
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SIO_000300: 6.3e0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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SIO_000300: 5.268e1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: -4.913e0

MQRankSum
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SIO_000300: -1.025e1

FS
type: SiteQuality
SIO_000300: 5.2498e1

QD
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SIO_000300: 1.507e1

DP
type: SiteQuality
SIO_000300: 1.689837e6

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

African
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allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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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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South Asian
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 21

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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bin: 9.75e1
variant carriers: 328

European (Non-Finnish)
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allele count: 268
allele frequency: 4.02245369675502e-3
allele num: 66626
num of homozygotes: 0

African
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allele frequency: 9.187423438138016e-4
allele num: 9796
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Latino
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allele frequency: 1.311876858492216e-3
allele num: 11434
num of homozygotes: 0

European (Finnish)
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allele count: 13
allele frequency: 1.966717095310136e-3
allele num: 6610
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Other
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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: 19
allele frequency: 1.152493024384326e-3
allele num: 16486
num of homozygotes: 0

DP
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 3.637686431429611e-4
allele num: 16494
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African
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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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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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 num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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VQSLOD
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DP
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MQ
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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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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 (Non-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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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South 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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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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Other
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Latino
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European (Finnish)
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South Asian
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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GenotypeDepth
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variant carriers: 2

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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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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East Asian
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Other
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QD
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MQ
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MQRankSum
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VQSLOD
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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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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QD
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FS
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MQ
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DP
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VQSLOD
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GenotypeQuality
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African
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European (Finnish)
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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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European (Non-Finnish)
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allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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MQ
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66704
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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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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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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QD
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FS
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MQRankSum
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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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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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66706
num of homozygotes: 0

South Asian
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European (Finnish)
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DP
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FS
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VQSLOD
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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MQ
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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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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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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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Latino
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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East Asian
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European (Finnish)
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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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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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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FS
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ClippingRankSum
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Non-Finnish)
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DP
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FS
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InbreedingCoeff
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MQ
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QD
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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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GenotypeQuality
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South Asian
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East 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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QD
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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African
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South Asian
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Latino
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European (Non-Finnish)
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DP
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MQ
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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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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QD
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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GenotypeQuality
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European (Non-Finnish)
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DP
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VQSLOD
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FS
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African
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MQ
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FS
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DP
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
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SIO_000300: -2.61e-1

ReadPosRankSum
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SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.694207e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11438
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
type: SiteQuality
SIO_000300: -4.43e-1

VQSLOD
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ReadPosRankSum
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MQ
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SIO_000300: 5.95e1

DP
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MQRankSum
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SIO_000300: -1.85e-1

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.214e1

BaseQRankSum
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SIO_000300: 2.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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variant carriers: 18

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
all individuals: 6616
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 11
allele frequency: 9.628851540616247e-4
allele num: 11424
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

African
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allele count: 195
allele frequency: 1.999179823662087e-2
allele num: 9754
num of homozygotes: 6

South Asian
type: Population
allele count: 4
allele frequency: 2.429248147698287e-4
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.016861531063088e-5
allele num: 66542
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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.261e0

FS
type: SiteQuality
SIO_000300: 1.203e0

VQSLOD
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SIO_000300: 3.99e0

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.308e1

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

DP
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SIO_000300: 1.699051e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.959e0

QD
type: SiteQuality
SIO_000300: 1.042e1

InbreedingCoeff
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SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
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SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 1.689821e6

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
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BaseQRankSum
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SIO_000300: -2.663e0

ReadPosRankSum
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DP
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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SIO_000300: 2.965e1

ClippingRankSum
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SIO_000300: 4.53e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11178
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.566905160602831e-5
allele num: 65690
num of homozygotes: 0

South Asian
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MQRankSum
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SIO_000300: 3.72e-1

ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.309944472488642e-5
allele num: 15848
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64722
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: 1.5e-3

DP
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ReadPosRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.610617188506636e-5
allele num: 62088
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 824
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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
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FS
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SIO_000300: 2.086e0

ClippingRankSum
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SIO_000300: 8.070000000000001e-1

MQ
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SIO_000300: 6.0e1

VQSLOD
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ReadPosRankSum
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SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

DP
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SIO_000300: 1.476265e6

BaseQRankSum
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SIO_000300: 2.49e0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.614674158754763e-5
allele num: 61932
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
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SIO_000300: 1.46461e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.065e0

BaseQRankSum
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SIO_000300: 3.57e0

MQRankSum
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SIO_000300: 2.33e-1

ClippingRankSum
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SIO_000300: -1.04e-1

ReadPosRankSum
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SIO_000300: 1.1e0

VQSLOD
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SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

GenotypeDepth
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variant carriers: 1

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
all individuals: 10738
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.297058918901391e-4
allele num: 61678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8858
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
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

FS
type: SiteQuality
SIO_000300: 8.7e-1

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -3.26e-1

ReadPosRankSum
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SIO_000300: -2.59e-1

ClippingRankSum
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SIO_000300: 1.72e-1

DP
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SIO_000300: 1.451455e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e0

QD
type: SiteQuality
SIO_000300: 1.171e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 607
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.015181030429233e-4
allele num: 59548
num of homozygotes: 0

European (Finnish)
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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14742
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

DP
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SIO_000300: 1.238596e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
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SIO_000300: 1.02e-1

QD
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SIO_000300: 1.459e1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.056e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeDepth
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variant carriers: 0

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
all individuals: 459
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58988
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 2.89e-1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.6e-3

ReadPosRankSum
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ClippingRankSum
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SIO_000300: 1.24e0

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 6.0e1

VQSLOD
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DP
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SIO_000300: 1.20043e6

QD
type: SiteQuality
SIO_000300: 3.72e0

GenotypeDepth
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variant carriers: 0

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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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7924
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 4.4296788482835e-4
allele num: 9030
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6832
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55858
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 4.313e0

DP
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InbreedingCoeff
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SIO_000300: -3.9e-3

MQ
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SIO_000300: 5.945e1

ReadPosRankSum
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SIO_000300: -2.78e-1

VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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
type: Population
allele count: 10
allele frequency: 6.565126050420169e-4
allele num: 15232
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: 0
allele frequency: 0.0e0
allele num: 65026
num of homozygotes: 0

East Asian
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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
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MQ
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DP
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SIO_000300: 1.673158e6

BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 2.8e-3

VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 3.17e-1

GenotypeDepth
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variant carriers: 0

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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bin: 9.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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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

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.537846399901578e-5
allele num: 65026
num of homozygotes: 0

FS
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SIO_000300: 4.509e0

BaseQRankSum
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SIO_000300: 2.32e0

QD
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SIO_000300: 1.183e1

MQRankSum
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InbreedingCoeff
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SIO_000300: 2.8e-3

DP
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ClippingRankSum
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SIO_000300: -3.34e-1

ReadPosRankSum
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SIO_000300: 3.17e-1

MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 9.44e-1

GenotypeDepth
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variant carriers: 0

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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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65056
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.560818790185015e-5
allele num: 15242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

BaseQRankSum
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SIO_000300: -1.869e0

ReadPosRankSum
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SIO_000300: -1.7e-2

QD
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VQSLOD
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SIO_000300: 4.25e-1

MQRankSum
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SIO_000300: 2.86e-1

InbreedingCoeff
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FS
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SIO_000300: 2.026e0

MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.704504e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 33

GenotypeQuality
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GenotypeQuality
all individuals: 4388
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
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allele count: 23
allele frequency: 2.038284296348813e-3
allele num: 11284
num of homozygotes: 0

African
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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
allele num: 65086
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 1.204529029149602e-3
allele num: 8302
num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 15208
num of homozygotes: 0

FS
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SIO_000300: 8.28e-1

VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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QD
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ReadPosRankSum
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SIO_000300: -3.03e-1

InbreedingCoeff
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SIO_000300: 2.9e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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
type: Population
allele count: 1
allele frequency: 1.201345506967804e-4
allele num: 8324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
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

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

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

Other
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num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -6.8e-1

ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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FS
type: SiteQuality
SIO_000300: 1.724e0

MQ
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SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

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

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

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

East Asian
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

South Asian
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QD
type: SiteQuality
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DP
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.795074758135444e-5
allele num: 11370
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66066
num of homozygotes: 0

East Asian
type: Population
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