19-41019155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019155
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019155
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 9484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2459G>A
  hgvsp: ENSP00000340741.3:p.Gly820Glu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2459G>A
  hgvsp: ENSP00000470693.1:p.Gly820Glu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2459G>A
  hgvsp: ENSP00000340345.3:p.Gly820Glu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2459G>A
  hgvsp: ENSP00000469242.1:p.Gly820Glu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2459G>A
  hgvsp: ENSP00000263373.2:p.Gly820Glu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.635G>A
  hgvsp: ENSP00000472136.1:p.Gly212Glu
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly820Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-41019171-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019171
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019171
    reference: chr 19
allele count: 2
allele frequency: 1.915341888527102e-4
allele num: 10442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2475T>A
  hgvsp: ENSP00000340345.3:p.His825Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2475T>A
  hgvsp: ENSP00000469242.1:p.His825Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2475T>A
  hgvsp: ENSP00000340741.3:p.His825Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.651T>A
  hgvsp: ENSP00000472136.1:p.His217Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2475T>A
  hgvsp: ENSP00000470693.1:p.His825Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2475T>A
  hgvsp: ENSP00000263373.2:p.His825Gln
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His825Gln
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-41019174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019174
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019174
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 10496
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2478C>T
  hgvsp: ENST00000352632.3:c.2478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.654C>T
  hgvsp: ENST00000597389.1:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2478C>T
  hgvsp: ENST00000595535.1:c.2478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2478C>T
  hgvsp: ENST00000338932.3:c.2478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2478C>T
  hgvsp: ENST00000598249.1:c.2478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2478C>T
  hgvsp: ENST00000344104.3:c.2478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 30937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17281
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Arg826Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

19-41019175-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019175
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019175
    reference: chr 19
allele count: 2
allele frequency: 1.864975755315181e-4
allele num: 10724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.655G>C
  hgvsp: ENSP00000472136.1:p.Gly219Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2479G>C
  hgvsp: ENSP00000469242.1:p.Gly827Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2479G>C
  hgvsp: ENSP00000470693.1:p.Gly827Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2479G>C
  hgvsp: ENSP00000340741.3:p.Gly827Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2479G>C
  hgvsp: ENSP00000340345.3:p.Gly827Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2479G>C
  hgvsp: ENSP00000263373.2:p.Gly827Arg
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly827Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

19-41019178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019178
    reference: chr 19
allele count: 1
allele frequency: 9.125752874612155e-5
allele num: 10958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2482C>T
  hgvsp: ENSP00000263373.2:p.Pro828Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2482C>T
  hgvsp: ENSP00000340345.3:p.Pro828Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.658C>T
  hgvsp: ENSP00000472136.1:p.Pro220Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2482C>T
  hgvsp: ENSP00000470693.1:p.Pro828Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2482C>T
  hgvsp: ENSP00000469242.1:p.Pro828Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2482C>T
  hgvsp: ENSP00000340741.3:p.Pro828Ser
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro828Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-41019180-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019180
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019180
    reference: chr 19
allele count: 1
allele frequency: 9.005763688760806e-5
allele num: 11104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.660C>G
  hgvsp: ENST00000597389.1:c.660C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2484C>G
  hgvsp: ENST00000352632.3:c.2484C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2484C>G
  hgvsp: ENST00000595535.1:c.2484C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2484C>G
  hgvsp: ENST00000344104.3:c.2484C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2484C>G
  hgvsp: ENST00000338932.3:c.2484C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2484C>G
  hgvsp: ENST00000598249.1:c.2484C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro828Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-41019203-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019203
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019203
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 16296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2507T>A
  hgvsp: ENSP00000469242.1:p.Leu836Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2507T>A
  hgvsp: ENSP00000340741.3:p.Leu836Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2507T>A
  hgvsp: ENSP00000263373.2:p.Leu836Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.683T>A
  hgvsp: ENSP00000472136.1:p.Leu228Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2507T>A
  hgvsp: ENSP00000470693.1:p.Leu836Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2507T>A
  hgvsp: ENSP00000340345.3:p.Leu836Gln
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26196
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22689
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu836Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-41019207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019207
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019207
    reference: chr 19
allele count: 1
allele frequency: 5.718860802928057e-5
allele num: 17486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2511G>A
  hgvsp: ENST00000338932.3:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2511G>A
  hgvsp: ENST00000598249.1:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.687G>A
  hgvsp: ENST00000597389.1:c.687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2511G>A
  hgvsp: ENST00000595535.1:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2511G>A
  hgvsp: ENST00000344104.3:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2511G>A
  hgvsp: ENST00000352632.3:c.2511G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala837Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

19-41019212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019212
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019212
    reference: chr 19
allele count: 1
allele frequency: 5.310674455655868e-5
allele num: 18830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2516T>C
  hgvsp: ENSP00000340741.3:p.Leu839Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.692T>C
  hgvsp: ENSP00000472136.1:p.Leu231Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2516T>C
  hgvsp: ENSP00000340345.3:p.Leu839Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2516T>C
  hgvsp: ENSP00000263373.2:p.Leu839Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2516T>C
  hgvsp: ENSP00000470693.1:p.Leu839Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2516T>C
  hgvsp: ENSP00000469242.1:p.Leu839Pro
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu839Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

19-41019213-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019213
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019213
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 18854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2517C>T
  hgvsp: ENST00000598249.1:c.2517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2517C>T
  hgvsp: ENST00000595535.1:c.2517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2517C>T
  hgvsp: ENST00000338932.3:c.2517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.693C>T
  hgvsp: ENST00000597389.1:c.693C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2517C>T
  hgvsp: ENST00000344104.3:c.2517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2517C>T
  hgvsp: ENST00000352632.3:c.2517C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28038
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu839Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

19-41019216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019216
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019216
    reference: chr 19
allele count: 1
allele frequency: 4.905808477237049e-5
allele num: 20384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2520G>A
  hgvsp: ENST00000595535.1:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2520G>A
  hgvsp: ENST00000344104.3:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2520G>A
  hgvsp: ENST00000598249.1:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2520G>A
  hgvsp: ENST00000352632.3:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2520G>A
  hgvsp: ENST00000338932.3:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.696G>A
  hgvsp: ENST00000597389.1:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18874
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly840Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

19-41019229-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019229
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019229
    reference: chr 19
allele count: 2
allele frequency: 7.620789513793629e-5
allele num: 26244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2533G>C
  hgvsp: ENSP00000470693.1:p.Ala845Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2533G>C
  hgvsp: ENSP00000340345.3:p.Ala845Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2533G>C
  hgvsp: ENSP00000263373.2:p.Ala845Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2533G>C
  hgvsp: ENSP00000340741.3:p.Ala845Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.709G>C
  hgvsp: ENSP00000472136.1:p.Ala237Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2533G>C
  hgvsp: ENSP00000469242.1:p.Ala845Pro
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15031
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala845Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-41019229-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019229
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019229
    reference: chr 19
allele count: 1
allele frequency: 3.810394756896815e-5
allele num: 26244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.709G>T
  hgvsp: ENSP00000472136.1:p.Ala237Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2533G>T
  hgvsp: ENSP00000469242.1:p.Ala845Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2533G>T
  hgvsp: ENSP00000340741.3:p.Ala845Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2533G>T
  hgvsp: ENSP00000340345.3:p.Ala845Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2533G>T
  hgvsp: ENSP00000263373.2:p.Ala845Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2533G>T
  hgvsp: ENSP00000470693.1:p.Ala845Ser
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15031
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27961
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala845Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

19-41019231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019231
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019231
    reference: chr 19
allele count: 2
allele frequency: 7.161784716751415e-5
allele num: 27926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2535A>G
  hgvsp: ENST00000344104.3:c.2535A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.711A>G
  hgvsp: ENST00000597389.1:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2535A>G
  hgvsp: ENST00000352632.3:c.2535A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2535A>G
  hgvsp: ENST00000595535.1:c.2535A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2535A>G
  hgvsp: ENST00000338932.3:c.2535A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2535A>G
  hgvsp: ENST00000598249.1:c.2535A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14046
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala845Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-41019240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019240
    reference: chr 19
allele count: 1
allele frequency: 2.856163601051068e-5
allele num: 35012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2544G>A
  hgvsp: ENST00000352632.3:c.2544G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2544G>A
  hgvsp: ENST00000598249.1:c.2544G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2544G>A
  hgvsp: ENST00000344104.3:c.2544G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.720G>A
  hgvsp: ENST00000597389.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2544G>A
  hgvsp: ENST00000338932.3:c.2544G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2544G>A
  hgvsp: ENST00000595535.1:c.2544G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu848Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-41019250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019250
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019250
    reference: chr 19
allele count: 32
allele frequency: 7.982836900663574e-4
allele num: 40086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2554C>T
  hgvsp: ENST00000344104.3:c.2554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2554C>T
  hgvsp: ENST00000338932.3:c.2554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2554C>T
  hgvsp: ENST00000598249.1:c.2554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.730C>T
  hgvsp: ENST00000597389.1:c.730C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2554C>T
  hgvsp: ENST00000352632.3:c.2554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2554C>T
  hgvsp: ENST00000595535.1:c.2554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30947
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9759
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29593
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Leu852Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-41019279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019279
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019279
    reference: chr 19
allele count: 1
allele frequency: 1.764290755116443e-5
allele num: 56680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2583G>A
  hgvsp: ENST00000344104.3:c.2583G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2583G>A
  hgvsp: ENST00000598249.1:c.2583G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.759G>A
  hgvsp: ENST00000597389.1:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2583G>A
  hgvsp: ENST00000595535.1:c.2583G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2583G>A
  hgvsp: ENST00000352632.3:c.2583G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2583G>A
  hgvsp: ENST00000338932.3:c.2583G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln861Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

19-41019292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019292
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019292
    reference: chr 19
allele count: 1
allele frequency: 1.625170642917506e-5
allele num: 61532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2596G>A
  hgvsp: ENSP00000469242.1:p.Val866Met
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.772G>A
  hgvsp: ENSP00000472136.1:p.Val258Met
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2596G>A
  hgvsp: ENSP00000470693.1:p.Val866Met
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2596G>A
  hgvsp: ENSP00000340345.3:p.Val866Met
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2596G>A
  hgvsp: ENSP00000263373.2:p.Val866Met
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2596G>A
  hgvsp: ENSP00000340741.3:p.Val866Met
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val866Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

19-41019298-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019298
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019298
    reference: chr 19
allele count: 2
allele frequency: 3.167764825139382e-5
allele num: 63136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2602G>C
  hgvsp: ENSP00000340345.3:p.Glu868Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2602G>C
  hgvsp: ENSP00000469242.1:p.Glu868Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2602G>C
  hgvsp: ENSP00000470693.1:p.Glu868Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2602G>C
  hgvsp: ENSP00000263373.2:p.Glu868Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2602G>C
  hgvsp: ENSP00000340741.3:p.Glu868Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.778G>C
  hgvsp: ENSP00000472136.1:p.Glu260Gln
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu868Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

19-41019305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019305
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019305
    reference: chr 19
allele count: 5
allele frequency: 7.787434196181042e-5
allele num: 64206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2609C>T
  hgvsp: ENSP00000469242.1:p.Ala870Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.785C>T
  hgvsp: ENSP00000472136.1:p.Ala262Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2609C>T
  hgvsp: ENSP00000340345.3:p.Ala870Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2609C>T
  hgvsp: ENSP00000263373.2:p.Ala870Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2609C>T
  hgvsp: ENSP00000340741.3:p.Ala870Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2609C>T
  hgvsp: ENSP00000470693.1:p.Ala870Val
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25169
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16423
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala870Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-41019306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019306
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019306
    reference: chr 19
allele count: 2
allele frequency: 3.106940905983968e-5
allele num: 64372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2610G>A
  hgvsp: ENST00000338932.3:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2610G>A
  hgvsp: ENST00000352632.3:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2610G>A
  hgvsp: ENST00000595535.1:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2610G>A
  hgvsp: ENST00000344104.3:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.786G>A
  hgvsp: ENST00000597389.1:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2610G>A
  hgvsp: ENST00000598249.1:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14828
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala870Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-41019318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019318
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019318
    reference: chr 19
allele count: 3
allele frequency: 4.421257405606155e-5
allele num: 67854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.798C>T
  hgvsp: ENST00000597389.1:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2622C>T
  hgvsp: ENST00000344104.3:c.2622C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2622C>T
  hgvsp: ENST00000338932.3:c.2622C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2622C>T
  hgvsp: ENST00000595535.1:c.2622C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2622C>T
  hgvsp: ENST00000352632.3:c.2622C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2622C>T
  hgvsp: ENST00000598249.1:c.2622C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg874Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-41019328-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019328
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019328
    reference: chr 19
allele count: 70
allele frequency: 1.031900465829353e-3
allele num: 67836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2632C>G
  hgvsp: ENSP00000469242.1:p.Arg878Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2632C>G
  hgvsp: ENSP00000340345.3:p.Arg878Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2632C>G
  hgvsp: ENSP00000263373.2:p.Arg878Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2632C>G
  hgvsp: ENSP00000340741.3:p.Arg878Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.808C>G
  hgvsp: ENSP00000472136.1:p.Arg270Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2632C>G
  hgvsp: ENSP00000470693.1:p.Arg878Gly
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 22511
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14631
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 4.75e1
  variant carriers: 4
hgvs: p.Arg878Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-41019329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019329
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019329
    reference: chr 19
allele count: 1
allele frequency: 1.418963021823651e-5
allele num: 70474
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2633G>A
  hgvsp: ENSP00000263373.2:p.Arg878Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2633G>A
  hgvsp: ENSP00000340345.3:p.Arg878Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2633G>A
  hgvsp: ENSP00000340741.3:p.Arg878Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2633G>A
  hgvsp: ENSP00000469242.1:p.Arg878Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.809G>A
  hgvsp: ENSP00000472136.1:p.Arg270Gln
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2633G>A
  hgvsp: ENSP00000470693.1:p.Arg878Gln
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14501
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24867
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15732
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg878Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

19-41019336-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019336
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019336
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 73224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2640G>T
  hgvsp: ENST00000598249.1:c.2640G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2640G>T
  hgvsp: ENST00000338932.3:c.2640G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2640G>T
  hgvsp: ENST00000352632.3:c.2640G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2640G>T
  hgvsp: ENST00000344104.3:c.2640G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2640G>T
  hgvsp: ENST00000595535.1:c.2640G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.816G>T
  hgvsp: ENST00000597389.1:c.816G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21224
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala880Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-41019340-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019340
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019340
    reference: chr 19
allele count: 3
allele frequency: 3.973194183243716e-5
allele num: 75506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2644G>A
  hgvsp: ENSP00000470693.1:p.Ala882Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2644G>A
  hgvsp: ENSP00000340345.3:p.Ala882Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2644G>A
  hgvsp: ENSP00000340741.3:p.Ala882Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2644G>A
  hgvsp: ENSP00000263373.2:p.Ala882Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.820G>A
  hgvsp: ENSP00000472136.1:p.Ala274Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2644G>A
  hgvsp: ENSP00000469242.1:p.Ala882Thr
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20403
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18614
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23419
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Ala882Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

19-41019348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019348
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019348
    reference: chr 19
allele count: 2
allele frequency: 2.469379691821414e-5
allele num: 80992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2652C>T
  hgvsp: ENST00000595535.1:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2652C>T
  hgvsp: ENST00000352632.3:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2652C>T
  hgvsp: ENST00000338932.3:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2652C>T
  hgvsp: ENST00000344104.3:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.828C>T
  hgvsp: ENST00000597389.1:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2652C>T
  hgvsp: ENST00000598249.1:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr884Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-41019350-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019350
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019350
    reference: chr 19
allele count: 1
allele frequency: 1.229649304018494e-5
allele num: 81324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.830G>T
  hgvsp: ENSP00000472136.1:p.Arg277Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2654G>T
  hgvsp: ENSP00000263373.2:p.Arg885Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2654G>T
  hgvsp: ENSP00000340741.3:p.Arg885Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2654G>T
  hgvsp: ENSP00000469242.1:p.Arg885Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2654G>T
  hgvsp: ENSP00000340345.3:p.Arg885Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2654G>T
  hgvsp: ENSP00000470693.1:p.Arg885Leu
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg885Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

19-41019353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019353
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019353
    reference: chr 19
allele count: 2
allele frequency: 2.400902739430026e-5
allele num: 83302
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2657T>C
  hgvsp: ENSP00000263373.2:p.Met886Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2657T>C
  hgvsp: ENSP00000470693.1:p.Met886Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2657T>C
  hgvsp: ENSP00000469242.1:p.Met886Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2657T>C
  hgvsp: ENSP00000340345.3:p.Met886Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.833T>C
  hgvsp: ENSP00000472136.1:p.Met278Thr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2657T>C
  hgvsp: ENSP00000340741.3:p.Met886Thr
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met886Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

19-41019358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019358
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019358
    reference: chr 19
allele count: 2
allele frequency: 2.371691490370933e-5
allele num: 84328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2662G>A
  hgvsp: ENSP00000263373.2:p.Gly888Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2662G>A
  hgvsp: ENSP00000469242.1:p.Gly888Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2662G>A
  hgvsp: ENSP00000340345.3:p.Gly888Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.838G>A
  hgvsp: ENSP00000472136.1:p.Gly280Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2662G>A
  hgvsp: ENSP00000340741.3:p.Gly888Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2662G>A
  hgvsp: ENSP00000470693.1:p.Gly888Ser
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly888Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-41019359-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019359
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019359
    reference: chr 19
allele count: 1
allele frequency: 1.181837520977616e-5
allele num: 84614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2663G>T
  hgvsp: ENSP00000340741.3:p.Gly888Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.839G>T
  hgvsp: ENSP00000472136.1:p.Gly280Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2663G>T
  hgvsp: ENSP00000263373.2:p.Gly888Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2663G>T
  hgvsp: ENSP00000469242.1:p.Gly888Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2663G>T
  hgvsp: ENSP00000470693.1:p.Gly888Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2663G>T
  hgvsp: ENSP00000340345.3:p.Gly888Val
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25786
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20071
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly888Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

19-41019367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019367
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019367
    reference: chr 19
allele count: 1
allele frequency: 1.156764760318342e-5
allele num: 86448
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2671C>T
  hgvsp: ENSP00000263373.2:p.His891Tyr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2671C>T
  hgvsp: ENSP00000340345.3:p.His891Tyr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2671C>T
  hgvsp: ENSP00000470693.1:p.His891Tyr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2671C>T
  hgvsp: ENSP00000340741.3:p.His891Tyr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.847C>T
  hgvsp: ENSP00000472136.1:p.His283Tyr
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2671C>T
  hgvsp: ENSP00000469242.1:p.His891Tyr
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His891Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

19-41019372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019372
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019372
    reference: chr 19
allele count: 1
allele frequency: 1.146920518408074e-5
allele num: 87190
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2676G>A
  hgvsp: ENST00000352632.3:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2676G>A
  hgvsp: ENST00000338932.3:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2676G>A
  hgvsp: ENST00000595535.1:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2676G>A
  hgvsp: ENST00000598249.1:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.852G>A
  hgvsp: ENST00000597389.1:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2676G>A
  hgvsp: ENST00000344104.3:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala892Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-41019381-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019381
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019381
    reference: chr 19
allele count: 1
allele frequency: 1.157889861516373e-5
allele num: 86364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2685G>C
  hgvsp: ENST00000352632.3:c.2685G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2685G>C
  hgvsp: ENST00000344104.3:c.2685G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2685G>C
  hgvsp: ENST00000595535.1:c.2685G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2685G>C
  hgvsp: ENST00000598249.1:c.2685G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2685G>C
  hgvsp: ENST00000338932.3:c.2685G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.861G>C
  hgvsp: ENST00000597389.1:c.861G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu895Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

19-41019385-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019385
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019385
    reference: chr 19
allele count: 15
allele frequency: 1.742686525547784e-4
allele num: 86074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2689A>G
  hgvsp: ENSP00000340345.3:p.Ile897Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2689A>G
  hgvsp: ENSP00000263373.2:p.Ile897Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.865A>G
  hgvsp: ENSP00000472136.1:p.Ile289Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2689A>G
  hgvsp: ENSP00000469242.1:p.Ile897Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2689A>G
  hgvsp: ENSP00000340741.3:p.Ile897Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2689A>G
  hgvsp: ENSP00000470693.1:p.Ile897Val
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25811
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16140
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20372
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile897Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-41019388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019388
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019388
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 85570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2692G>A
  hgvsp: ENSP00000470693.1:p.Gly898Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2692G>A
  hgvsp: ENSP00000340345.3:p.Gly898Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2692G>A
  hgvsp: ENSP00000340741.3:p.Gly898Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2692G>A
  hgvsp: ENSP00000469242.1:p.Gly898Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.868G>A
  hgvsp: ENSP00000472136.1:p.Gly290Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2692G>A
  hgvsp: ENSP00000263373.2:p.Gly898Ser
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16219
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly898Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-41019396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019396
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019396
    reference: chr 19
allele count: 1
allele frequency: 1.196343972819065e-5
allele num: 83588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2700G>A
  hgvsp: ENST00000344104.3:c.2700G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.876G>A
  hgvsp: ENST00000597389.1:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2700G>A
  hgvsp: ENST00000352632.3:c.2700G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2700G>A
  hgvsp: ENST00000338932.3:c.2700G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2700G>A
  hgvsp: ENST00000595535.1:c.2700G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2700G>A
  hgvsp: ENST00000598249.1:c.2700G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24023
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys900Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-41019399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019399
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019399
    reference: chr 19
allele count: 9
allele frequency: 1.106085930586963e-4
allele num: 81368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2703G>A
  hgvsp: ENST00000352632.3:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.879G>A
  hgvsp: ENST00000597389.1:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2703G>A
  hgvsp: ENST00000595535.1:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2703G>A
  hgvsp: ENST00000344104.3:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2703G>A
  hgvsp: ENST00000338932.3:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2703G>A
  hgvsp: ENST00000598249.1:c.2703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21836
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu901Glu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

19-41019411-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019411
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019411
    reference: chr 19
allele count: 1
allele frequency: 1.326999124180578e-5
allele num: 75358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2715C>T
  hgvsp: ENST00000338932.3:c.2715C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2715C>T
  hgvsp: ENST00000598249.1:c.2715C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2715C>T
  hgvsp: ENST00000352632.3:c.2715C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.891C>T
  hgvsp: ENST00000597389.1:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2715C>T
  hgvsp: ENST00000595535.1:c.2715C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2715C>T
  hgvsp: ENST00000344104.3:c.2715C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu905Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-41019413-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019413
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019413
    reference: chr 19
allele count: 1
allele frequency: 1.346910188028662e-5
allele num: 74244
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2717C>G
  hgvsp: ENSP00000263373.2:p.Ser906Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2717C>G
  hgvsp: ENSP00000469242.1:p.Ser906Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2717C>G
  hgvsp: ENSP00000470693.1:p.Ser906Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2717C>G
  hgvsp: ENSP00000340741.3:p.Ser906Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2717C>G
  hgvsp: ENSP00000340345.3:p.Ser906Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.893C>G
  hgvsp: ENSP00000472136.1:p.Ser298Cys
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser906Cys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-41019413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019413
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019413
    reference: chr 19
allele count: 1
allele frequency: 1.346910188028662e-5
allele num: 74244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2717C>T
  hgvsp: ENSP00000340741.3:p.Ser906Phe
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2717C>T
  hgvsp: ENSP00000263373.2:p.Ser906Phe
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2717C>T
  hgvsp: ENSP00000340345.3:p.Ser906Phe
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.893C>T
  hgvsp: ENSP00000472136.1:p.Ser298Phe
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2717C>T
  hgvsp: ENSP00000469242.1:p.Ser906Phe
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2717C>T
  hgvsp: ENSP00000470693.1:p.Ser906Phe
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11948
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser906Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-41019418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019418
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019418
    reference: chr 19
allele count: 4
allele frequency: 5.640794223826715e-5
allele num: 70912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2722C>T
  hgvsp: ENSP00000469242.1:p.Arg908Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.898C>T
  hgvsp: ENSP00000472136.1:p.Arg300Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2722C>T
  hgvsp: ENSP00000340345.3:p.Arg908Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2722C>T
  hgvsp: ENSP00000340741.3:p.Arg908Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2722C>T
  hgvsp: ENSP00000263373.2:p.Arg908Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2722C>T
  hgvsp: ENSP00000470693.1:p.Arg908Cys
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29610
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg908Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

19-41019435-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019435
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019435
    reference: chr 19
allele count: 1
allele frequency: 1.756913454443234e-5
allele num: 56918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2739C>T
  hgvsp: ENST00000598249.1:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.915C>T
  hgvsp: ENST00000597389.1:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2739C>T
  hgvsp: ENST00000595535.1:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2739C>T
  hgvsp: ENST00000352632.3:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2739C>T
  hgvsp: ENST00000344104.3:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2739C>T
  hgvsp: ENST00000338932.3:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu913Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-41019440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019440
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019440
    reference: chr 19
allele count: 1
allele frequency: 1.820697691355328e-5
allele num: 54924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2744A>G
  hgvsp: ENSP00000340345.3:p.Asp915Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2744A>G
  hgvsp: ENSP00000340741.3:p.Asp915Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.920A>G
  hgvsp: ENSP00000472136.1:p.Asp307Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2744A>G
  hgvsp: ENSP00000469242.1:p.Asp915Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2744A>G
  hgvsp: ENSP00000263373.2:p.Asp915Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2744A>G
  hgvsp: ENSP00000470693.1:p.Asp915Gly
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp915Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-41019460-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019460
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019460
    reference: chr 19
allele count: 1
allele frequency: 2.621094569092053e-5
allele num: 38152
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2764C>A
  hgvsp: ENST00000352632.3:c.2764C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2764C>A
  hgvsp: ENST00000598249.1:c.2764C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.940C>A
  hgvsp: ENST00000597389.1:c.940C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2764C>A
  hgvsp: ENST00000338932.3:c.2764C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2764C>A
  hgvsp: ENST00000344104.3:c.2764C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2764C>A
  hgvsp: ENST00000595535.1:c.2764C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2764C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-41019460-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019460
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019460
    reference: chr 19
allele count: 1
allele frequency: 2.621094569092053e-5
allele num: 38152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2764C>G
  hgvsp: ENSP00000340741.3:p.Arg922Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2764C>G
  hgvsp: ENSP00000469242.1:p.Arg922Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.940C>G
  hgvsp: ENSP00000472136.1:p.Arg314Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2764C>G
  hgvsp: ENSP00000263373.2:p.Arg922Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2764C>G
  hgvsp: ENSP00000340345.3:p.Arg922Gly
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2764C>G
  hgvsp: ENSP00000470693.1:p.Arg922Gly
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31843
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg922Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

19-41019468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019468
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019468
    reference: chr 19
allele count: 1
allele frequency: 3.127541127165822e-5
allele num: 31974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2765+7G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2765+7G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2765+7G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2765+7G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2765+7G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.941+7G>A
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24103
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.25e1
  variant carriers: 0
hgvs: c.2765+7G>A
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-41019469-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019469
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019469
    reference: chr 19
allele count: 1
allele frequency: 3.1379440190787e-5
allele num: 31868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2765+8C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2765+8C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2765+8C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2765+8C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2765+8C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.941+8C>A
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19848
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2765+8C>A
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-41019474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019474
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019474
    reference: chr 19
allele count: 1
allele frequency: 3.641660597232338e-5
allele num: 27460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2765+13A>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2765+13A>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2765+13A>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2765+13A>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.941+13A>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2765+13A>G
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

19-41019486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019486
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019486
    reference: chr 19
allele count: 1
allele frequency: 6.421782686873876e-5
allele num: 15572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2765+25G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2765+25G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2765+25G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2765+25G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2765+25G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.941+25G>A
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19908
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-41019487-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41019487
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41019487
    reference: chr 19
allele count: 1
allele frequency: 6.641870350690754e-5
allele num: 15056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2765+26G>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2765+26G>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2765+26G>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2765+26G>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.941+26G>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2765+26G>T
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30164
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

19-41021170-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021170
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021170
    reference: chr 19
allele count: 32
allele frequency: 3.383379149925989e-4
allele num: 94580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-48C>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-48C>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-48C>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-48C>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-48C>G
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-48C>G
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17040
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11674
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11908
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4932
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-41021175-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021175
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021175
    reference: chr 19
allele count: 2
allele frequency: 2.106061244260983e-5
allele num: 94964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-43G>C
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-43G>C
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-43G>C
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-43G>C
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-43G>C
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-43G>C
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16641
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12163
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11969
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.75e1
  variant carriers: 3
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: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-41021177-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021177
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021177
    reference: chr 19
allele count: 1
allele frequency: 1.051591057269649e-5
allele num: 95094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-41C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-41C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-41C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-41C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-41C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-41C>A
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-41021178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021178
    reference: chr 19
allele count: 4
allele frequency: 4.209905908602943e-5
allele num: 95014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-40C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-40C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-40C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-40C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-40C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-40C>T
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16125
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

19-41021179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021179
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021179
    reference: chr 19
allele count: 1
allele frequency: 1.052321421054847e-5
allele num: 95028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-39G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-39G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-39G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-39G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-39G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-39G>A
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-41021187-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021187
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021187
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 96352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-31C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-31C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-31C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-31C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-31C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-31C>A
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4756
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-41021187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021187
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021187
    reference: chr 19
allele count: 29
allele frequency: 3.009797409498506e-4
allele num: 96352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-31C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-31C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-31C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-31C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-31C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-31C>T
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21925
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27003
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12819
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-41021188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021188
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021188
    reference: chr 19
allele count: 1
allele frequency: 1.03404061711544e-5
allele num: 96708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-30G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-30G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-30G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-30G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-30G>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-30G>A
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

19-41021189-G-GGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021189
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021191
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 97150
alternate allele: GGT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-26_942-25dupGT
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-26_2766-25dupGT
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-26_2766-25dupGT
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-26_2766-25dupGT
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-26_2766-25dupGT
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-26_2766-25dupGT
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-41021199-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021199
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021199
    reference: chr 19
allele count: 1
allele frequency: 1.005874305946729e-5
allele num: 99416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-19C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-19C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-19C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-19C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-19C>A
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-19C>A
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-41021202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021202
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021202
    reference: chr 19
allele count: 1
allele frequency: 1.001161347162709e-5
allele num: 99884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-16C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-16C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-16C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-16C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-16C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-16C>T
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33811
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-41021209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021209
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021209
    reference: chr 19
allele count: 1
allele frequency: 9.880251353594436e-6
allele num: 101212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2766-9C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2766-9C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2766-9C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.942-9C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2766-9C>T
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2766-9C>T
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-41021221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021221
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021221
    reference: chr 19
allele count: 3
allele frequency: 2.928657893709243e-5
allele num: 102436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2769C>T
  hgvsp: ENST00000344104.3:c.2769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2769C>T
  hgvsp: ENST00000595535.1:c.2769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2769C>T
  hgvsp: ENST00000338932.3:c.2769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2769C>T
  hgvsp: ENST00000352632.3:c.2769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.945C>T
  hgvsp: ENST00000597389.1:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2769C>T
  hgvsp: ENST00000598249.1:c.2769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31487
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe923Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

19-41021231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021231
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021231
    reference: chr 19
allele count: 1
allele frequency: 9.780525018582997e-6
allele num: 102244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.955G>A
  hgvsp: ENSP00000472136.1:p.Asp319Asn
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2779G>A
  hgvsp: ENSP00000469242.1:p.Asp927Asn
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2779G>A
  hgvsp: ENSP00000263373.2:p.Asp927Asn
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2779G>A
  hgvsp: ENSP00000470693.1:p.Asp927Asn
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2779G>A
  hgvsp: ENSP00000340345.3:p.Asp927Asn
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2779G>A
  hgvsp: ENSP00000340741.3:p.Asp927Asn
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp927Asn
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: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-41021232-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021232
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021231
    reference: chr 19
allele count: 1
allele frequency: 9.803921568627451e-6
allele num: 102000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2782delC
  hgvsp: ENSP00000340345.3:p.Gln928LysfsTer3
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.958delC
  hgvsp: ENSP00000472136.1:p.Gln320LysfsTer3
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2782delC
  hgvsp: ENSP00000340741.3:p.Gln928LysfsTer3
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2782delC
  hgvsp: ENSP00000263373.2:p.Gln928LysfsTer3
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2782delC
  hgvsp: ENSP00000470693.1:p.Gln928LysfsTer3
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2782delC
  hgvsp: ENSP00000469242.1:p.Gln928LysfsTer3
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln928LysfsTer3
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AC
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

19-41021240-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021240
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021240
    reference: chr 19
allele count: 1
allele frequency: 1.000840706193202e-5
allele num: 99916
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2788A>T
  hgvsp: ENSP00000263373.2:p.Met930Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2788A>T
  hgvsp: ENSP00000469242.1:p.Met930Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2788A>T
  hgvsp: ENSP00000470693.1:p.Met930Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2788A>T
  hgvsp: ENSP00000340741.3:p.Met930Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.964A>T
  hgvsp: ENSP00000472136.1:p.Met322Leu
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2788A>T
  hgvsp: ENSP00000340345.3:p.Met930Leu
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met930Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-41021246-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021246
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021246
    reference: chr 19
allele count: 1
allele frequency: 1.031778786628147e-5
allele num: 96920
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2794A>C
  hgvsp: ENSP00000263373.2:p.Ser932Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2794A>C
  hgvsp: ENSP00000340345.3:p.Ser932Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2794A>C
  hgvsp: ENSP00000469242.1:p.Ser932Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2794A>C
  hgvsp: ENSP00000340741.3:p.Ser932Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.970A>C
  hgvsp: ENSP00000472136.1:p.Ser324Arg
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2794A>C
  hgvsp: ENSP00000470693.1:p.Ser932Arg
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser932Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-41021249-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021249
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021249
    reference: chr 19
allele count: 1
allele frequency: 1.048305937604831e-5
allele num: 95392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2797C>G
  hgvsp: ENSP00000340741.3:p.Leu933Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.973C>G
  hgvsp: ENSP00000472136.1:p.Leu325Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2797C>G
  hgvsp: ENSP00000469242.1:p.Leu933Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2797C>G
  hgvsp: ENSP00000263373.2:p.Leu933Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2797C>G
  hgvsp: ENSP00000340345.3:p.Leu933Val
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2797C>G
  hgvsp: ENSP00000470693.1:p.Leu933Val
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu933Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

19-41021251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021251
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021251
    reference: chr 19
allele count: 1
allele frequency: 1.059905880357824e-5
allele num: 94348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2799G>A
  hgvsp: ENST00000352632.3:c.2799G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2799G>A
  hgvsp: ENST00000595535.1:c.2799G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.975G>A
  hgvsp: ENST00000597389.1:c.975G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2799G>A
  hgvsp: ENST00000598249.1:c.2799G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2799G>A
  hgvsp: ENST00000338932.3:c.2799G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2799G>A
  hgvsp: ENST00000344104.3:c.2799G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu933Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

19-41021255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021255
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021255
    reference: chr 19
allele count: 1
allele frequency: 1.080333607017847e-5
allele num: 92564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2803G>A
  hgvsp: ENSP00000340741.3:p.Gly935Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2803G>A
  hgvsp: ENSP00000263373.2:p.Gly935Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2803G>A
  hgvsp: ENSP00000470693.1:p.Gly935Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.979G>A
  hgvsp: ENSP00000472136.1:p.Gly327Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2803G>A
  hgvsp: ENSP00000340345.3:p.Gly935Ser
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2803G>A
  hgvsp: ENSP00000469242.1:p.Gly935Ser
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19678
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly935Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-41021258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021258
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021258
    reference: chr 19
allele count: 6
allele frequency: 6.617987690542896e-5
allele num: 90662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2806C>T
  hgvsp: ENSP00000469242.1:p.Arg936Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2806C>T
  hgvsp: ENSP00000340345.3:p.Arg936Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2806C>T
  hgvsp: ENSP00000470693.1:p.Arg936Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2806C>T
  hgvsp: ENSP00000340741.3:p.Arg936Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.982C>T
  hgvsp: ENSP00000472136.1:p.Arg328Cys
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2806C>T
  hgvsp: ENSP00000263373.2:p.Arg936Cys
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19870
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Arg936Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-41021259-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41021259
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 41021259
    reference: chr 19
allele count: 1
allele frequency: 1.110864252388358e-5
allele num: 90020
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000263373
  ensembl transcript: ENST00000352632
  gene symbol: SPTBN4
  hgvsc: ENST00000352632.3:c.2807G>C
  hgvsp: ENSP00000263373.2:p.Arg936Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340345
  ensembl transcript: ENST00000338932
  gene symbol: SPTBN4
  hgvsc: ENST00000338932.3:c.2807G>C
  hgvsp: ENSP00000340345.3:p.Arg936Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000472136
  ensembl transcript: ENST00000597389
  gene symbol: SPTBN4
  hgvsc: ENST00000597389.1:c.983G>C
  hgvsp: ENSP00000472136.1:p.Arg328Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000470693
  ensembl transcript: ENST00000595535
  gene symbol: SPTBN4
  hgvsc: ENST00000595535.1:c.2807G>C
  hgvsp: ENSP00000470693.1:p.Arg936Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000340741
  ensembl transcript: ENST00000344104
  gene symbol: SPTBN4
  hgvsc: ENST00000344104.3:c.2807G>C
  hgvsp: ENSP00000340741.3:p.Arg936Pro
  variant of: http://identifiers.org/hgnc/14896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160460
  ensembl protein: ENSP00000469242
  ensembl transcript: ENST00000598249
  gene symbol: SPTBN4
  hgvsc: ENST00000598249.1:c.2807G>C
  hgvsp: ENSP00000469242.1:p.Arg936Pro
  variant of: http://identifiers.org/hgnc/14896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10442
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg936Pro
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1948
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31920
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 174
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.09e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.43e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.212e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 2.50618e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 2183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29843
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.365870077415012e-4
allele num: 5942
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.80025e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.519999999999999e-2

QD
type: SiteQuality
SIO_000300: 2.499e1

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14494
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3390
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.46e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.87009e5

FS
type: SiteQuality
SIO_000300: 2.632e0

VQSLOD
type: SiteQuality
SIO_000300: -6.647999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 1626
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 29086
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.854368932038835e-3
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.38e-2

DP
type: SiteQuality
SIO_000300: 2.90477e5

FS
type: SiteQuality
SIO_000300: 5.932e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 2.686e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 122
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28759
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.721829069134459e-4
allele num: 3674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 78
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.641e1

DP
type: SiteQuality
SIO_000300: 2.96569e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.262e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 16026
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1462
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.660989888238425e-4
allele num: 3758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.292e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.185e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.01734e5

QD
type: SiteQuality
SIO_000300: 9.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 881
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 475
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6792
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.64e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e0

DP
type: SiteQuality
SIO_000300: 3.89093e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

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

GenotypeQuality
all individuals: 513
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.343363782912413e-4
allele num: 7444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 4.04439e5

QD
type: SiteQuality
SIO_000300: 1.075e1

VQSLOD
type: SiteQuality
SIO_000300: -1.336e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.47e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 20129
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4100
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.418485237483953e-4
allele num: 1558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 4.23746e5

QD
type: SiteQuality
SIO_000300: 1.417e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.19e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.059e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.11e0

GenotypeQuality
all individuals: 1947
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19764
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8184
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.28992e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.25e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.008e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24637
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.793742757821553e-4
allele num: 1726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.591e0

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.96e-2

DP
type: SiteQuality
SIO_000300: 4.42877e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

GenotypeQuality
all individuals: 1606
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.484472049689441e-4
allele num: 8050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.73e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.09067e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.049e0

GenotypeQuality
all individuals: 6429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.142502071251035e-4
allele num: 2414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.09067e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.106e0

VQSLOD
type: SiteQuality
SIO_000300: -1.049e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.73e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 706
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7222
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.495215311004785e-4
allele num: 13376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.665e0

DP
type: SiteQuality
SIO_000300: 5.27434e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 9.348000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
all individuals: 347
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.658669081032141e-5
allele num: 17672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.317e0

MQ
type: SiteQuality
SIO_000300: 5.75e1

QD
type: SiteQuality
SIO_000300: 7.77e0

VQSLOD
type: SiteQuality
SIO_000300: -1.724e0

FS
type: SiteQuality
SIO_000300: 3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 5.90219e5

GenotypeQuality
all individuals: 426
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8647
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1906
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10947
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 153
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 31
allele frequency: 3.290870488322718e-3
allele num: 9420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.589331952356292e-4
allele num: 3862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

DP
type: SiteQuality
SIO_000300: 6.40598e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 2.339e0

QD
type: SiteQuality
SIO_000300: 1.326e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e0

GenotypeQuality
all individuals: 572
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1906
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.363295880149813e-5
allele num: 10680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 7.94971e5

VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.050000000000001e0

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeQuality
all individuals: 444
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28096
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34328
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.895193977996526e-4
allele num: 3454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 3.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.394e0

FS
type: SiteQuality
SIO_000300: 2.522e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.24662e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeQuality
all individuals: 17344
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1472
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.330490405117271e-4
allele num: 3752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35188
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.31154e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 1.714e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeQuality
all individuals: 350
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26959
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 312
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 1.02291325695581e-3
allele num: 4888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.788e0

DP
type: SiteQuality
SIO_000300: 8.33118e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.472e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.51e0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2954
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.795013695567108e-5
allele num: 35778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4032
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.716e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 1.6064e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.29631e5

QD
type: SiteQuality
SIO_000300: 2.619e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeQuality
all individuals: 938
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.535496957403651e-4
allele num: 11832
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

FS
type: SiteQuality
SIO_000300: 2.348e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 8.45101e5

QD
type: SiteQuality
SIO_000300: 5.39e0

MQRankSum
type: SiteQuality
SIO_000300: -1.239e0

VQSLOD
type: SiteQuality
SIO_000300: -2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

GenotypeQuality
all individuals: 104
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1103
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 24279
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1188
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 21
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 3.968253968253968e-4
allele num: 5040
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.136752136752137e-3
allele num: 468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 9.669621273166801e-4
allele num: 37230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.112474437627812e-4
allele num: 1956
num of homozygotes: 0

African
type: Population
allele count: 30
allele frequency: 5.175983436853002e-3
allele num: 5796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11956
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

QD
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -8.581999999999999e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

MQ
type: SiteQuality
SIO_000300: 5.711e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.19e-2

FS
type: SiteQuality
SIO_000300: 1.34121e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.829e0

DP
type: SiteQuality
SIO_000300: 8.56388e5

GenotypeQuality
all individuals: 928
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.572810538231965e-5
allele num: 38868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6064
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.459e0

DP
type: SiteQuality
SIO_000300: 8.56865e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

FS
type: SiteQuality
SIO_000300: 5.768e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

QD
type: SiteQuality
SIO_000300: 2.169e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

GenotypeQuality
all individuals: 187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40274
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 8.83057e5

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.152e1

GenotypeQuality
all individuals: 739
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 205
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.234494067714864e-5
allele num: 41468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.031e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

DP
type: SiteQuality
SIO_000300: 9.07598e5

QD
type: SiteQuality
SIO_000300: 1.363e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

FS
type: SiteQuality
SIO_000300: 1.6467e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21581
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.511413877109086e-5
allele num: 44332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.109e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

DP
type: SiteQuality
SIO_000300: 9.68375e5

GenotypeQuality
all individuals: 658
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 908
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.249415152060464e-5
allele num: 44456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 3.035e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

DP
type: SiteQuality
SIO_000300: 9.7963e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.723e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

GenotypeQuality
all individuals: 590
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20737
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 443
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13038
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.962962962962963e-4
allele num: 6750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6730
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

DP
type: SiteQuality
SIO_000300: 9.90556e5

FS
type: SiteQuality
SIO_000300: 5.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 8.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.73e-2

GenotypeQuality
all individuals: 1694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27908
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.63708568810142e-5
allele num: 13094
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.639344262295082e-3
allele num: 610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45876
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.92e-1

FS
type: SiteQuality
SIO_000300: 2.47e0

QD
type: SiteQuality
SIO_000300: 1.753e1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

DP
type: SiteQuality
SIO_000300: 1.004238e6

GenotypeQuality
all individuals: 1101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.173818529629146e-5
allele num: 46002
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.006286e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.917e0

GenotypeQuality
all individuals: 67
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.138122728244601e-5
allele num: 46770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

VQSLOD
type: SiteQuality
SIO_000300: -2.193e0

DP
type: SiteQuality
SIO_000300: 1.029493e6

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 4.467e0

QD
type: SiteQuality
SIO_000300: 6.35e0

GenotypeQuality
all individuals: 611
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1833
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13352
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.424095699230988e-4
allele num: 7022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.039362e6

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 4.332e0

VQSLOD
type: SiteQuality
SIO_000300: -2.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 4.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
all individuals: 214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1292
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.158056023134361e-5
allele num: 46338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.026703e6

QD
type: SiteQuality
SIO_000300: 9.67e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

FS
type: SiteQuality
SIO_000300: 6.301e0

GenotypeQuality
all individuals: 1325
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 237
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7018
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.633986928104575e-3
allele num: 612
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 1.128923007450892e-3
allele num: 8858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.675660434650588e-5
allele num: 46106
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.088e0

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

QD
type: SiteQuality
SIO_000300: 1.282e1

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.021847e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

GenotypeQuality
all individuals: 1169
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1759
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45776
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.020232e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

QD
type: SiteQuality
SIO_000300: 7.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 28212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6710
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.656967840735069e-5
allele num: 13060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.153e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.352e1

VQSLOD
type: SiteQuality
SIO_000300: -2.695e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 9.96396e5

GenotypeQuality
all individuals: 399
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23516
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 25
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.969180734087037e-4
allele num: 12914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43220
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

DP
type: SiteQuality
SIO_000300: 9.68831e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

GenotypeQuality
all individuals: 432
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2056
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12448
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.282051282051282e-4
allele num: 7800
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

QD
type: SiteQuality
SIO_000300: 1.302e1

FS
type: SiteQuality
SIO_000300: 8.26e-1

DP
type: SiteQuality
SIO_000300: 8.94949e5

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
all individuals: 1116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2092
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.558199027884369e-5
allele num: 39090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.823e0

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

FS
type: SiteQuality
SIO_000300: 1.427e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.355e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

DP
type: SiteQuality
SIO_000300: 8.82037e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.69606512890095e-4
allele num: 5896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

DP
type: SiteQuality
SIO_000300: 8.82037e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

FS
type: SiteQuality
SIO_000300: 1.427e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.823e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.355e0

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
all individuals: 2201
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1142
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5684
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.373626373626374e-4
allele num: 7280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.325008325008325e-5
allele num: 12012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.376633152320017e-5
allele num: 37198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 8.45277e5

QD
type: SiteQuality
SIO_000300: 7.02e0

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

FS
type: SiteQuality
SIO_000300: 4.079e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

GenotypeQuality
all individuals: 6510
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33809
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.403212632725293e-5
allele num: 29384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

DP
type: SiteQuality
SIO_000300: 6.91746e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.781e1

MQRankSum
type: SiteQuality
SIO_000300: -1.633e0

FS
type: SiteQuality
SIO_000300: 5.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.614e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

QD
type: SiteQuality
SIO_000300: 2.13e0

GenotypeQuality
all individuals: 8294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35052
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.324500232450023e-4
allele num: 4302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

FS
type: SiteQuality
SIO_000300: 2.808e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.071e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

DP
type: SiteQuality
SIO_000300: 6.64372e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.86e0

GenotypeQuality
all individuals: 31843
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.324468085106383e-4
allele num: 3008
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.723e-1

QD
type: SiteQuality
SIO_000300: 8.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

DP
type: SiteQuality
SIO_000300: 5.08614e5

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 564
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.220296512841929e-5
allele num: 19156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1298
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.08614e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.54e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 8.77e0

VQSLOD
type: SiteQuality
SIO_000300: -7.723e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2267
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29472
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2554
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.409171075837742e-4
allele num: 2268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.068e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 9.582000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.48e-1

DP
type: SiteQuality
SIO_000300: 4.56713e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.731e1

GenotypeQuality
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30041
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.409171075837742e-4
allele num: 2268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15850
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.5558e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 9.582000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.64e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.668e1

GenotypeQuality
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23587
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.617076326002587e-4
allele num: 6184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.26e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

DP
type: SiteQuality
SIO_000300: 4.13156e5

QD
type: SiteQuality
SIO_000300: 1.255e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 443
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 756
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.364256480218281e-4
allele num: 7330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.554e0

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.68e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

DP
type: SiteQuality
SIO_000300: 3.31252e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.077e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

GenotypeQuality
all individuals: 3566
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29987
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.46e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 3.24906e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.498e0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

GenotypeQuality
all individuals: 600
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3015
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 6540
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 9.75e1
variant carriers: 31

Latino
type: Population
allele count: 4
allele frequency: 5.00751126690035e-4
allele num: 7988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.892290807251258e-5
allele num: 52846
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 3.255365324330842e-3
allele num: 8294
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12876
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.79718e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

FS
type: SiteQuality
SIO_000300: 1.921e0

QD
type: SiteQuality
SIO_000300: 1.346e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3841
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.767045882618851e-5
allele num: 53092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4782
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.464e0

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

DP
type: SiteQuality
SIO_000300: 1.000723e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3798
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2519
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12924
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.202790473899447e-4
allele num: 8314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 1.533e0

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.010239e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 2.943e1

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.883381045653156e-5
allele num: 53096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.322340919647004e-4
allele num: 12918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

QD
type: SiteQuality
SIO_000300: 8.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.115e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 7.049e0

VQSLOD
type: SiteQuality
SIO_000300: -4.022e-1

DP
type: SiteQuality
SIO_000300: 1.018573e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 696
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2834
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7190
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.201634222542658e-4
allele num: 8322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.032271e6

QD
type: SiteQuality
SIO_000300: 1.247e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.368e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 1.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.787e1

GenotypeQuality
all individuals: 3399
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27003
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 1.094848e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeQuality
all individuals: 256
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 89
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3399
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4756
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.694675284702985e-5
allele num: 12996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4834
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.186521120075937e-3
allele num: 8428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.855218730288301e-5
allele num: 53902
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.945525291828794e-3
allele num: 8224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.374759417102007e-4
allele num: 7274
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e0

QD
type: SiteQuality
SIO_000300: 1.136e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

FS
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.094848e6

GenotypeQuality
all individuals: 27806
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12775
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.209774981853375e-4
allele num: 8266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54090
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.856e1

DP
type: SiteQuality
SIO_000300: 1.104394e6

MQ
type: SiteQuality
SIO_000300: 5.787e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 2.649e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.931e0

GenotypeQuality
all individuals: 889
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12724
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28931
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: -1.203e0

DP
type: SiteQuality
SIO_000300: 1.111844e6

QD
type: SiteQuality
SIO_000300: 1.828e1

FS
type: SiteQuality
SIO_000300: 4.771e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1538
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.793271644788752e-5
allele num: 55764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13206
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.172025e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.998e0

FS
type: SiteQuality
SIO_000300: 5.078e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

QD
type: SiteQuality
SIO_000300: 1.017e1

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.785076758300607e-5
allele num: 56020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.182019e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.601e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
all individuals: 11350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36622
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.760935408889202e-5
allele num: 56788
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.617e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

MQ
type: SiteQuality
SIO_000300: 5.82e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

DP
type: SiteQuality
SIO_000300: 1.209485e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

GenotypeQuality
all individuals: 1108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 297
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 244
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.476084538375973e-5
allele num: 57536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7670
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.446016381236039e-5
allele num: 13430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5194
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.237e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

DP
type: SiteQuality
SIO_000300: 1.237592e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.08e-1

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38926
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.464914899970141e-5
allele num: 13396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57466
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.376e0

FS
type: SiteQuality
SIO_000300: 1.3268e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.762e0

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.433e1

VQSLOD
type: SiteQuality
SIO_000300: -2.049e0

DP
type: SiteQuality
SIO_000300: 1.238619e6

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11951
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9074
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.470491558344539e-5
allele num: 13386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.235376e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.401e0

MQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.515e1

GenotypeQuality
all individuals: 435
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36403
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.135073779795687e-4
allele num: 8810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 1.414e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.136e0

QD
type: SiteQuality
SIO_000300: 4.68e0

DP
type: SiteQuality
SIO_000300: 1.210489e6

GenotypeQuality
all individuals: 3441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16315
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837627255687456e-5
allele num: 54418
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.956e-1

FS
type: SiteQuality
SIO_000300: 2.522e0

DP
type: SiteQuality
SIO_000300: 1.173355e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

QD
type: SiteQuality
SIO_000300: 6.58e0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 623
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.868320753306928e-5
allele num: 53524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.156803e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.555e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

GenotypeQuality
all individuals: 274
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29829
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.249375312343828e-4
allele num: 8004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

FS
type: SiteQuality
SIO_000300: 1.1478e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.383e1

MQ
type: SiteQuality
SIO_000300: 5.673e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

DP
type: SiteQuality
SIO_000300: 1.143464e6

VQSLOD
type: SiteQuality
SIO_000300: -1.604e0

GenotypeQuality
all individuals: 1581
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.928640308582449e-5
allele num: 51850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 1.120998e6

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1536
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.335113484646195e-4
allele num: 7490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.849887711280092e-5
allele num: 50762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12628
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.508e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 1.8135e1

DP
type: SiteQuality
SIO_000300: 1.098287e6

QD
type: SiteQuality
SIO_000300: 1.534e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1