5-140908744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908744
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908744
    reference: chr 5
allele count: 3
allele frequency: 2.48406061107891e-5
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2737G>A
  hgvsp: ENSP00000428268.1:p.Val913Met
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2773G>A
  hgvsp: ENSP00000381565.4:p.Val925Met
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2746G>A
  hgvsp: ENSP00000373709.5:p.Val916Met
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2776G>A
  hgvsp: ENSP00000253811.6:p.Val926Met
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2602G>A
  hgvsp: ENSP00000429282.1:p.Val868Met
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.346G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.399G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.273G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2764G>A
  hgvsp: ENSP00000373706.3:p.Val922Met
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2749G>A
  hgvsp: ENSP00000381572.3:p.Val917Met
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*149G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2701G>A
  hgvsp: ENSP00000381570.2:p.Val901Met
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val925Met
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-140908745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908745
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908745
    reference: chr 5
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2745C>T
  hgvsp: ENST00000389057.5:c.2745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2601C>T
  hgvsp: ENST00000520569.1:c.2601C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2763C>T
  hgvsp: ENST00000389054.3:c.2763C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.398C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2700C>T
  hgvsp: ENST00000398562.2:c.2700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2772C>T
  hgvsp: ENST00000398557.4:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2775C>T
  hgvsp: ENST00000253811.6:c.2775C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.345C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2748C>T
  hgvsp: ENST00000398566.3:c.2748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*148C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.272C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2736C>T
  hgvsp: ENST00000518047.1:c.2736C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly924Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

5-140908753-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908753
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908753
    reference: chr 5
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2740C>A
  hgvsp: ENSP00000381572.3:p.Gln914Lys
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.264C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*140C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2728C>A
  hgvsp: ENSP00000428268.1:p.Gln910Lys
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2755C>A
  hgvsp: ENSP00000373706.3:p.Gln919Lys
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2692C>A
  hgvsp: ENSP00000381570.2:p.Gln898Lys
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2593C>A
  hgvsp: ENSP00000429282.1:p.Gln865Lys
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2764C>A
  hgvsp: ENSP00000381565.4:p.Gln922Lys
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2737C>A
  hgvsp: ENSP00000373709.5:p.Gln913Lys
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.337C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.390C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2767C>A
  hgvsp: ENSP00000253811.6:p.Gln923Lys
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln922Lys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

5-140908759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908759
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908759
    reference: chr 5
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2734T>C
  hgvsp: ENSP00000381572.3:p.Ser912Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*134T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2686T>C
  hgvsp: ENSP00000381570.2:p.Ser896Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2758T>C
  hgvsp: ENSP00000381565.4:p.Ser920Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2722T>C
  hgvsp: ENSP00000428268.1:p.Ser908Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.384T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2731T>C
  hgvsp: ENSP00000373709.5:p.Ser911Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2587T>C
  hgvsp: ENSP00000429282.1:p.Ser863Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2761T>C
  hgvsp: ENSP00000253811.6:p.Ser921Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.258T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2749T>C
  hgvsp: ENSP00000373706.3:p.Ser917Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.331T>C
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser920Pro
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-140908782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908782
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908782
    reference: chr 5
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*111A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.361A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.308A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2663A>G
  hgvsp: ENSP00000381570.2:p.Asp888Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2726A>G
  hgvsp: ENSP00000373706.3:p.Asp909Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2564A>G
  hgvsp: ENSP00000429282.1:p.Asp855Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2735A>G
  hgvsp: ENSP00000381565.4:p.Asp912Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2711A>G
  hgvsp: ENSP00000381572.3:p.Asp904Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.235A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2708A>G
  hgvsp: ENSP00000373709.5:p.Asp903Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2699A>G
  hgvsp: ENSP00000428268.1:p.Asp900Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2738A>G
  hgvsp: ENSP00000253811.6:p.Asp913Gly
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp912Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

5-140908784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908784
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908784
    reference: chr 5
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2736G>A
  hgvsp: ENST00000253811.6:c.2736G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2709G>A
  hgvsp: ENST00000398566.3:c.2709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.306G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2733G>A
  hgvsp: ENST00000398557.4:c.2733G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2562G>A
  hgvsp: ENST00000520569.1:c.2562G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.233G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2697G>A
  hgvsp: ENST00000518047.1:c.2697G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2661G>A
  hgvsp: ENST00000398562.2:c.2661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2724G>A
  hgvsp: ENST00000389054.3:c.2724G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2706G>A
  hgvsp: ENST00000389057.5:c.2706G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.359G>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys911Lys
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

5-140908814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908814
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908814
    reference: chr 5
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.203A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2676A>G
  hgvsp: ENST00000389057.5:c.2676A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2631A>G
  hgvsp: ENST00000398562.2:c.2631A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.329A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2532A>G
  hgvsp: ENST00000520569.1:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2694A>G
  hgvsp: ENST00000389054.3:c.2694A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2667A>G
  hgvsp: ENST00000518047.1:c.2667A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2679A>G
  hgvsp: ENST00000398566.3:c.2679A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*79A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.276A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2703A>G
  hgvsp: ENST00000398557.4:c.2703A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2706A>G
  hgvsp: ENST00000253811.6:c.2706A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro901Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-140908815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908815
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908815
    reference: chr 5
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2678C>T
  hgvsp: ENSP00000381572.3:p.Pro893Leu
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2666C>T
  hgvsp: ENSP00000428268.1:p.Pro889Leu
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2702C>T
  hgvsp: ENSP00000381565.4:p.Pro901Leu
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2531C>T
  hgvsp: ENSP00000429282.1:p.Pro844Leu
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.275C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2630C>T
  hgvsp: ENSP00000381570.2:p.Pro877Leu
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2693C>T
  hgvsp: ENSP00000373706.3:p.Pro898Leu
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2675C>T
  hgvsp: ENSP00000373709.5:p.Pro892Leu
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.202C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.328C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*78C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2705C>T
  hgvsp: ENSP00000253811.6:p.Pro902Leu
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro901Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

5-140908816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908816
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908816
    reference: chr 5
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2704C>T
  hgvsp: ENSP00000253811.6:p.Pro902Ser
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.274C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2629C>T
  hgvsp: ENSP00000381570.2:p.Pro877Ser
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2674C>T
  hgvsp: ENSP00000373709.5:p.Pro892Ser
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2665C>T
  hgvsp: ENSP00000428268.1:p.Pro889Ser
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2692C>T
  hgvsp: ENSP00000373706.3:p.Pro898Ser
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2701C>T
  hgvsp: ENSP00000381565.4:p.Pro901Ser
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.201C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2677C>T
  hgvsp: ENSP00000381572.3:p.Pro893Ser
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2530C>T
  hgvsp: ENSP00000429282.1:p.Pro844Ser
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.327C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*77C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro901Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

5-140908823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908823
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908823
    reference: chr 5
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2622G>A
  hgvsp: ENSP00000381570.2:p.Met874Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.267G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*70G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2658G>A
  hgvsp: ENSP00000428268.1:p.Met886Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.320G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2667G>A
  hgvsp: ENSP00000373709.5:p.Met889Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2523G>A
  hgvsp: ENSP00000429282.1:p.Met841Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.194G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2670G>A
  hgvsp: ENSP00000381572.3:p.Met890Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2685G>A
  hgvsp: ENSP00000373706.3:p.Met895Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2694G>A
  hgvsp: ENSP00000381565.4:p.Met898Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2697G>A
  hgvsp: ENSP00000253811.6:p.Met899Ile
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met898Ile
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

5-140908838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908838
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908838
    reference: chr 5
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2643C>T
  hgvsp: ENST00000518047.1:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2607C>T
  hgvsp: ENST00000398562.2:c.2607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2652C>T
  hgvsp: ENST00000389057.5:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2670C>T
  hgvsp: ENST00000389054.3:c.2670C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.179C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2682C>T
  hgvsp: ENST00000253811.6:c.2682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2679C>T
  hgvsp: ENST00000398557.4:c.2679C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2655C>T
  hgvsp: ENST00000398566.3:c.2655C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*55C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2508C>T
  hgvsp: ENST00000520569.1:c.2508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.252C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.305C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2679C>T
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-140908851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908851
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908851
    reference: chr 5
allele count: 3
allele frequency: 2.48954391555467e-5
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2641-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2653-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2650-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2605-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2680-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.303-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*53-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2506-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2677-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.250-11C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2668-11C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

5-140908854-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908854
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908854
    reference: chr 5
allele count: 39
allele frequency: 3.238772256178581e-4
allele num: 120416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2605-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2680-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2641-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2668-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*53-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2506-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2653-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2677-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2650-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.303-14C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.250-14C>G
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24189
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14924
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

5-140908868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908868
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908868
    reference: chr 5
allele count: 1
allele frequency: 8.34306691139663e-6
allele num: 119860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2668-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.303-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2653-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2680-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2650-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2605-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2641-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.250-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2506-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*53-28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2677-28C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13022
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

5-140908871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908871
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908871
    reference: chr 5
allele count: 1
allele frequency: 8.354498061756449e-6
allele num: 119696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*53-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2605-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2677-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2680-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2641-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2650-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.303-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2506-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2653-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2668-31C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.250-31C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

5-140908872-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908872
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908872
    reference: chr 5
allele count: 1
allele frequency: 8.355335717389125e-6
allele num: 119684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.303-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2653-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2668-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2650-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2677-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2641-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2506-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2605-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2680-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*53-32C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.250-32C>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

5-140908879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140908879
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140908879
    reference: chr 5
allele count: 11
allele frequency: 9.230201218386561e-5
allele num: 119174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2677-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2650-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2506-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2605-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2668-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2641-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*53-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2653-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.250-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2680-39G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.303-39G>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15834
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

5-140909126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909126
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909126
    reference: chr 5
allele count: 2
allele frequency: 1.661019201381968e-5
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2640+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-286G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2652+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2604+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2679+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*52+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.302+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2676+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2667+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2649+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.249+44G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2505+44G>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-140909132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909132
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909132
    reference: chr 5
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-292T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2676+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.249+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.302+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2652+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2505+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2640+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2649+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2604+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2679+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2667+38T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*52+38T>C
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-140909136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909136
    reference: chr 5
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-296C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2640+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2505+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.249+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2604+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2652+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2676+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*52+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2679+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2649+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.302+34C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2667+34C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-140909136-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909136
    reference: chr 5
allele count: 2
allele frequency: 1.658567329540743e-5
allele num: 120586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.249+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2505+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2604+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2649+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2679+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2640+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2652+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-296C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*52+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.302+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2676+34C>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2667+34C>G
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

5-140909142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909142
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909142
    reference: chr 5
allele count: 38
allele frequency: 3.149710723936144e-4
allele num: 120646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*52+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2676+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2652+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2604+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-302C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2640+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2649+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2505+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.249+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.302+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2667+28C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2679+28C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-140909149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909149
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909149
    reference: chr 5
allele count: 106
allele frequency: 8.782540971382174e-4
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*52+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2652+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2505+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2667+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2604+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2649+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2676+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2679+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.249+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2640+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.302+21G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-309G>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18151
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

5-140909154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909154
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909154
    reference: chr 5
allele count: 2
allele frequency: 1.656671415791392e-5
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2640+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2679+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.302+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2505+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2649+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2652+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2604+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-314G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2676+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2667+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*52+16G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.249+16G>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/5-140909156-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909156
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909155
    reference: chr 5
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2604+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2652+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.249+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*52+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2505+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2640+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2667+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-317delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2649+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.302+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2676+13delG
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2679+13delG
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: AC
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

5-140909174-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909174
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909174
    reference: chr 5
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2501T>C
  hgvsp: ENSP00000429282.1:p.Ile834Thr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2645T>C
  hgvsp: ENSP00000373709.5:p.Ile882Thr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2675T>C
  hgvsp: ENSP00000253811.6:p.Ile892Thr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2600T>C
  hgvsp: ENSP00000381570.2:p.Ile867Thr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2636T>C
  hgvsp: ENSP00000428268.1:p.Ile879Thr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.245T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2672T>C
  hgvsp: ENSP00000381565.4:p.Ile891Thr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2663T>C
  hgvsp: ENSP00000373706.3:p.Ile888Thr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2648T>C
  hgvsp: ENSP00000381572.3:p.Ile883Thr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*48T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-334T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.298T>C
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile891Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

5-140909178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909178
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909178
    reference: chr 5
allele count: 8
allele frequency: 6.624600453785131e-5
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2596A>G
  hgvsp: ENSP00000381570.2:p.Met866Val
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2641A>G
  hgvsp: ENSP00000373709.5:p.Met881Val
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2644A>G
  hgvsp: ENSP00000381572.3:p.Met882Val
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2632A>G
  hgvsp: ENSP00000428268.1:p.Met878Val
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.294A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2659A>G
  hgvsp: ENSP00000373706.3:p.Met887Val
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-338A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.241A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*44A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2671A>G
  hgvsp: ENSP00000253811.6:p.Met891Val
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2668A>G
  hgvsp: ENSP00000381565.4:p.Met890Val
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2497A>G
  hgvsp: ENSP00000429282.1:p.Met833Val
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met890Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

5-140909201-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909201
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909201
    reference: chr 5
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.218A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2648A>T
  hgvsp: ENSP00000253811.6:p.Asn883Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2609A>T
  hgvsp: ENSP00000428268.1:p.Asn870Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2573A>T
  hgvsp: ENSP00000381570.2:p.Asn858Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2474A>T
  hgvsp: ENSP00000429282.1:p.Asn825Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*21A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2636A>T
  hgvsp: ENSP00000373706.3:p.Asn879Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-361A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.271A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2621A>T
  hgvsp: ENSP00000381572.3:p.Asn874Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2618A>T
  hgvsp: ENSP00000373709.5:p.Asn873Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2645A>T
  hgvsp: ENSP00000381565.4:p.Asn882Ile
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn882Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

5-140909212-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909212
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909212
    reference: chr 5
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.*10C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-372C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2463C>A
  hgvsp: ENST00000520569.1:c.2463C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2598C>A
  hgvsp: ENST00000518047.1:c.2598C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.207C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2625C>A
  hgvsp: ENST00000389054.3:c.2625C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2607C>A
  hgvsp: ENST00000389057.5:c.2607C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2637C>A
  hgvsp: ENST00000253811.6:c.2637C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2562C>A
  hgvsp: ENST00000398562.2:c.2562C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2610C>A
  hgvsp: ENST00000398566.3:c.2610C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.260C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2634C>A
  hgvsp: ENST00000398557.4:c.2634C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile878Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

5-140909224-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909224
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909224
    reference: chr 5
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.195T>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2595T>A
  hgvsp: ENST00000389057.5:c.2595T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2598T>A
  hgvsp: ENST00000398566.3:c.2598T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.248T>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2613T>A
  hgvsp: ENST00000389054.3:c.2613T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2550T>A
  hgvsp: ENST00000398562.2:c.2550T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-384T>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2586T>A
  hgvsp: ENST00000518047.1:c.2586T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2590T>A
  hgvsp: ENSP00000427880.1:p.Ter864LysextTer8
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2622T>A
  hgvsp: ENST00000398557.4:c.2622T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2451T>A
  hgvsp: ENST00000520569.1:c.2451T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2625T>A
  hgvsp: ENST00000253811.6:c.2625T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter864LysextTer8
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

5-140909242-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909242
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909242
    reference: chr 5
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.177C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2577C>A
  hgvsp: ENST00000389057.5:c.2577C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.230C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2604C>A
  hgvsp: ENST00000398557.4:c.2604C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2572C>A
  hgvsp: ENSP00000427880.1:p.His858Asn
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-402C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2433C>A
  hgvsp: ENST00000520569.1:c.2433C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2580C>A
  hgvsp: ENST00000398566.3:c.2580C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2568C>A
  hgvsp: ENST00000518047.1:c.2568C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2607C>A
  hgvsp: ENST00000253811.6:c.2607C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2532C>A
  hgvsp: ENST00000398562.2:c.2532C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2595C>A
  hgvsp: ENST00000389054.3:c.2595C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His858Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-140909242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909242
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909242
    reference: chr 5
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2604C>T
  hgvsp: ENST00000398557.4:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2572C>T
  hgvsp: ENSP00000427880.1:p.His858Tyr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.177C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2580C>T
  hgvsp: ENST00000398566.3:c.2580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.230C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2532C>T
  hgvsp: ENST00000398562.2:c.2532C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2607C>T
  hgvsp: ENST00000253811.6:c.2607C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2595C>T
  hgvsp: ENST00000389054.3:c.2595C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2433C>T
  hgvsp: ENST00000520569.1:c.2433C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2577C>T
  hgvsp: ENST00000389057.5:c.2577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2568C>T
  hgvsp: ENST00000518047.1:c.2568C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-402C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His858Tyr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-140909262-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909262
    reference: chr 5
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2548A>T
  hgvsp: ENSP00000428268.1:p.Ile850Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2584A>T
  hgvsp: ENSP00000381565.4:p.Ile862Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2552A>T
  hgvsp: ENSP00000427880.1:p.Asn851Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2575A>T
  hgvsp: ENSP00000373706.3:p.Ile859Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.157A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2557A>T
  hgvsp: ENSP00000373709.5:p.Ile853Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-422A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2560A>T
  hgvsp: ENSP00000381572.3:p.Ile854Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2512A>T
  hgvsp: ENSP00000381570.2:p.Ile838Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.210A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2587A>T
  hgvsp: ENSP00000253811.6:p.Ile863Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2413A>T
  hgvsp: ENSP00000429282.1:p.Ile805Phe
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile862Phe
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-140909267-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909267
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909267
    reference: chr 5
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-427C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-3C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-3C>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2582-3C>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

5-140909275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909275
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909275
    reference: chr 5
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-11T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-435T>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-11T>C
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

5-140909287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909287
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909287
    reference: chr 5
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-447C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-23C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-23C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

5-140909291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909291
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909291
    reference: chr 5
allele count: 1
allele frequency: 8.303992559622666e-6
allele num: 120424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-451A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-27A>G
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD

5-140909292-GTTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909292
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909289
    reference: chr 5
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-31_2550-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-31_2582-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-31_2573-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-31_2510-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-31_208-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-31_155-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-31_2558-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-31_2585-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-31_2555-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-31_2411-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-31_2546-29delGAA
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-455_177-453delGAA
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: GTTC
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

5-140909294-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909294
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909294
    reference: chr 5
allele count: 1
allele frequency: 8.307165761185599e-6
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-454A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-30A>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-30A>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17105
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

5-140909300-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909300
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909300
    reference: chr 5
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-460G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-36G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-36G>C
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

5-140909300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909300
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909300
    reference: chr 5
allele count: 2
allele frequency: 1.663284654535777e-5
allele num: 120244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-460G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-36G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-36G>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16212
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-140909301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909301
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909301
    reference: chr 5
allele count: 2
allele frequency: 1.663727414900343e-5
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-461C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-37C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-37C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11828
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-140909301-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909301
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909301
    reference: chr 5
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-461C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-37C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-37C>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-140909302-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909302
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909302
    reference: chr 5
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-462C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-38C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-38C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

5-140909307-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909307
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909307
    reference: chr 5
allele count: 2
allele frequency: 1.664807631478183e-5
allele num: 120134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-467A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-43A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-43A>G
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

5-140909310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909310
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909310
    reference: chr 5
allele count: 1
allele frequency: 8.342927700188551e-6
allele num: 119862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-470G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-46G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-46G>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-140909311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909311
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909311
    reference: chr 5
allele count: 2
allele frequency: 1.669783596045953e-5
allele num: 119776
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-471G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-47G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-47G>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

5-140909312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909312
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909312
    reference: chr 5
allele count: 2
allele frequency: 1.67266036631262e-5
allele num: 119570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-472C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-48C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-48C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12535
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

5-140909312-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909312
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909312
    reference: chr 5
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-472C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-48C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-48C>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-140909315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140909315
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140909315
    reference: chr 5
allele count: 1
allele frequency: 8.358548287333457e-6
allele num: 119638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2573-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2550-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.155-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.177-475A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2582-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2411-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2546-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2555-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.208-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2558-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2510-51A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2585-51A>G
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

5-140913861-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913861
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913861
    reference: chr 5
allele count: 1
allele frequency: 8.374788536589452e-6
allele num: 119406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2554+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2410+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2584+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2557+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2549+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2545+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2572+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2581+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.207+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2509+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.154+41A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.176+41A>G
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

5-140913869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913869
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913869
    reference: chr 5
allele count: 1
allele frequency: 8.356313194618534e-6
allele num: 119670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.154+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2557+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2509+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2410+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2554+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.207+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.176+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2549+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2545+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2572+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2584+33G>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2581+33G>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-140913881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913881
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913881
    reference: chr 5
allele count: 2
allele frequency: 1.667889785842951e-5
allele num: 119912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2549+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2557+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.176+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2572+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2410+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2554+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.207+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2581+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.154+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2584+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2545+21A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2509+21A>G
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-140913881-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913881
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913881
    reference: chr 5
allele count: 2
allele frequency: 1.667889785842951e-5
allele num: 119912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2584+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2557+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2572+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2545+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.207+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.176+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2509+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.154+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2549+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2554+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2581+21A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2410+21A>C
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

5-140913885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913885
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913885
    reference: chr 5
allele count: 1
allele frequency: 8.333333333333334e-6
allele num: 120000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.207+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2557+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.176+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2545+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2581+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2410+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2509+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2554+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.154+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2572+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2549+17C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2584+17C>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

5-140913915-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913915
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913915
    reference: chr 5
allele count: 1
allele frequency: 8.30675172780436e-6
allele num: 120384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.163A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.141A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2544A>G
  hgvsp: ENST00000398566.3:c.2544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2532A>G
  hgvsp: ENST00000518047.1:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2397A>G
  hgvsp: ENST00000520569.1:c.2397A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2496A>G
  hgvsp: ENST00000398562.2:c.2496A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2559A>G
  hgvsp: ENST00000389054.3:c.2559A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2568A>G
  hgvsp: ENST00000398557.4:c.2568A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2536A>G
  hgvsp: ENSP00000427880.1:p.Ser846Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2541A>G
  hgvsp: ENST00000389057.5:c.2541A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.194A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2571A>G
  hgvsp: ENST00000253811.6:c.2571A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser846Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/5-140913926-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913926
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913926
    reference: chr 5
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2386G>T
  hgvsp: ENSP00000429282.1:p.Asp796Tyr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2560G>T
  hgvsp: ENSP00000253811.6:p.Asp854Tyr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2548G>T
  hgvsp: ENSP00000373706.3:p.Asp850Tyr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2533G>T
  hgvsp: ENSP00000381572.3:p.Asp845Tyr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2525G>T
  hgvsp: ENSP00000427880.1:p.Gly842Val
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2521G>T
  hgvsp: ENSP00000428268.1:p.Asp841Tyr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2557G>T
  hgvsp: ENSP00000381565.4:p.Asp853Tyr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.183G>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.130G>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2530G>T
  hgvsp: ENSP00000373709.5:p.Asp844Tyr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2485G>T
  hgvsp: ENSP00000381570.2:p.Asp829Tyr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.152G>T
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp853Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

5-140913938-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913938
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913938
    reference: chr 5
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2509T>A
  hgvsp: ENSP00000428268.1:p.Leu837Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2545T>A
  hgvsp: ENSP00000381565.4:p.Leu849Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2513T>A
  hgvsp: ENSP00000427880.1:p.Val838Asp
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.171T>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2536T>A
  hgvsp: ENSP00000373706.3:p.Leu846Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2374T>A
  hgvsp: ENSP00000429282.1:p.Leu792Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.118T>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2548T>A
  hgvsp: ENSP00000253811.6:p.Leu850Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2518T>A
  hgvsp: ENSP00000373709.5:p.Leu840Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2521T>A
  hgvsp: ENSP00000381572.3:p.Leu841Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2473T>A
  hgvsp: ENSP00000381570.2:p.Leu825Ile
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.140T>A
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu849Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

5-140913958-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913958
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913958
    reference: chr 5
allele count: 395
allele frequency: 3.276757420403829e-3
allele num: 120546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.120A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2516A>C
  hgvsp: ENSP00000373706.3:p.Gln839Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2528A>C
  hgvsp: ENSP00000253811.6:p.Gln843Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2489A>C
  hgvsp: ENSP00000428268.1:p.Gln830Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2453A>C
  hgvsp: ENSP00000381570.2:p.Gln818Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2493A>C
  hgvsp: ENST00000521457.1:c.2493A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.98A>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2501A>C
  hgvsp: ENSP00000381572.3:p.Gln834Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2525A>C
  hgvsp: ENSP00000381565.4:p.Gln842Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2498A>C
  hgvsp: ENSP00000373709.5:p.Gln833Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2354A>C
  hgvsp: ENSP00000429282.1:p.Gln785Pro
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.151A>C
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 9.75e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 16457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln842Pro
num of homozygotes: 16
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

5-140913964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913964
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913964
    reference: chr 5
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2510C>T
  hgvsp: ENSP00000373706.3:p.Ser837Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2487C>T
  hgvsp: ENST00000521457.1:c.2487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2519C>T
  hgvsp: ENSP00000381565.4:p.Ser840Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2348C>T
  hgvsp: ENSP00000429282.1:p.Ser783Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.92C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.114C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2492C>T
  hgvsp: ENSP00000373709.5:p.Ser831Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2483C>T
  hgvsp: ENSP00000428268.1:p.Ser828Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2495C>T
  hgvsp: ENSP00000381572.3:p.Ser832Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.145C>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2447C>T
  hgvsp: ENSP00000381570.2:p.Ser816Phe
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2522C>T
  hgvsp: ENSP00000253811.6:p.Ser841Phe
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser840Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/5-140913969-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913969
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913969
    reference: chr 5
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2487G>T
  hgvsp: ENSP00000373709.5:p.Lys829Asn
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.140G>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.87G>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2517G>T
  hgvsp: ENSP00000253811.6:p.Lys839Asn
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2478G>T
  hgvsp: ENSP00000428268.1:p.Lys826Asn
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2442G>T
  hgvsp: ENSP00000381570.2:p.Lys814Asn
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2482G>T
  hgvsp: ENSP00000427880.1:p.Glu828Ter
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2514G>T
  hgvsp: ENSP00000381565.4:p.Lys838Asn
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2490G>T
  hgvsp: ENSP00000381572.3:p.Lys830Asn
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2343G>T
  hgvsp: ENSP00000429282.1:p.Lys781Asn
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.109G>T
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2505G>T
  hgvsp: ENSP00000373706.3:p.Lys835Asn
  variant of: http://identifiers.org/hgnc/2876
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu828Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

5-140913977-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913977
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913977
    reference: chr 5
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2482G>C
  hgvsp: ENSP00000381572.3:p.Glu828Gln
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2479G>C
  hgvsp: ENSP00000373709.5:p.Glu827Gln
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2474G>C
  hgvsp: ENSP00000427880.1:p.Arg825Thr
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.79G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2335G>C
  hgvsp: ENSP00000429282.1:p.Glu779Gln
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.132G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2470G>C
  hgvsp: ENSP00000428268.1:p.Glu824Gln
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2509G>C
  hgvsp: ENSP00000253811.6:p.Glu837Gln
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2434G>C
  hgvsp: ENSP00000381570.2:p.Glu812Gln
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2506G>C
  hgvsp: ENSP00000381565.4:p.Glu836Gln
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2497G>C
  hgvsp: ENSP00000373706.3:p.Glu833Gln
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.101G>C
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu836Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

5-140913988-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913988
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913988
    reference: chr 5
allele count: 2
allele frequency: 1.65977858553669e-5
allele num: 120498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2463A>G
  hgvsp: ENST00000521457.1:c.2463A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2324A>G
  hgvsp: ENSP00000429282.1:p.Gln775Arg
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2468A>G
  hgvsp: ENSP00000373709.5:p.Gln823Arg
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.90A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2486A>G
  hgvsp: ENSP00000373706.3:p.Gln829Arg
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2459A>G
  hgvsp: ENSP00000428268.1:p.Gln820Arg
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2423A>G
  hgvsp: ENSP00000381570.2:p.Gln808Arg
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2495A>G
  hgvsp: ENSP00000381565.4:p.Gln832Arg
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.68A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2471A>G
  hgvsp: ENSP00000381572.3:p.Gln824Arg
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.121A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2498A>G
  hgvsp: ENSP00000253811.6:p.Gln833Arg
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln832Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

5-140913991-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140913991
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140913991
    reference: chr 5
allele count: 1
allele frequency: 8.299030673217368e-6
allele num: 120496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2495A>G
  hgvsp: ENSP00000253811.6:p.Asp832Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2456A>G
  hgvsp: ENSP00000428268.1:p.Asp819Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.118A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2468A>G
  hgvsp: ENSP00000381572.3:p.Asp823Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.87A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2460A>G
  hgvsp: ENST00000521457.1:c.2460A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2420A>G
  hgvsp: ENSP00000381570.2:p.Asp807Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.65A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2465A>G
  hgvsp: ENSP00000373709.5:p.Asp822Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2321A>G
  hgvsp: ENSP00000429282.1:p.Asp774Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2483A>G
  hgvsp: ENSP00000373706.3:p.Asp828Gly
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2492A>G
  hgvsp: ENSP00000381565.4:p.Asp831Gly
  variant of: http://identifiers.org/hgnc/2876
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp831Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

5-140914025-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140914025
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140914025
    reference: chr 5
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2459-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.31G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2474-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2312-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2486-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2456-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2451-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.78-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2483-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.109-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2447-25G>C
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2411-25G>C
  variant of: http://identifiers.org/hgnc/2876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

5-140914027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140914027
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140914027
    reference: chr 5
allele count: 1
allele frequency: 8.337780149413021e-6
allele num: 119936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2312-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2411-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2451-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2447-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2456-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2486-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2483-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2459-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2474-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.29A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.78-27A>G
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.109-27A>G
  variant of: http://identifiers.org/hgnc/2876
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-140914028-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 140914028
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 140914028
    reference: chr 5
allele count: 19
allele frequency: 1.584468869356372e-4
allele num: 119914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381570
  ensembl transcript: ENST00000398562
  gene symbol: DIAPH1
  hgvsc: ENST00000398562.2:c.2411-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373709
  ensembl transcript: ENST00000389057
  gene symbol: DIAPH1
  hgvsc: ENST00000389057.5:c.2456-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000494967
  gene symbol: DIAPH1
  hgvsc: ENST00000494967.1:n.28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000373706
  ensembl transcript: ENST00000389054
  gene symbol: DIAPH1
  hgvsc: ENST00000389054.3:c.2474-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381565
  ensembl transcript: ENST00000398557
  gene symbol: DIAPH1
  hgvsc: ENST00000398557.4:c.2483-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000429282
  ensembl transcript: ENST00000520569
  gene symbol: DIAPH1
  hgvsc: ENST00000520569.1:c.2312-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000381572
  ensembl transcript: ENST00000398566
  gene symbol: DIAPH1
  hgvsc: ENST00000398566.3:c.2459-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000253811
  ensembl transcript: ENST00000253811
  gene symbol: DIAPH1
  hgvsc: ENST00000253811.6:c.2486-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000491754
  gene symbol: DIAPH1
  hgvsc: ENST00000491754.1:n.78-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000427880
  ensembl transcript: ENST00000521457
  gene symbol: DIAPH1
  hgvsc: ENST00000521457.1:c.2451-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl transcript: ENST00000518484
  gene symbol: DIAPH1
  hgvsc: ENST00000518484.1:n.109-28C>A
  variant of: http://identifiers.org/hgnc/2876
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131504
  ensembl protein: ENSP00000428268
  ensembl transcript: ENST00000518047
  gene symbol: DIAPH1
  hgvsc: ENST00000518047.1:c.2447-28C>A
  variant of: http://identifiers.org/hgnc/2876
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9908
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10545
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 4252
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15335
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2355
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 672
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10175
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1807
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 2.406343e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.499e0

QD
type: SiteQuality
SIO_000300: 1.131e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

GenotypeDepth
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4252
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 33151
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2886
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8342
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10175
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1807
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.167e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 2.406208e6

GenotypeDepth
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8341
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

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

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8626
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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East Asian
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South Asian
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Latino
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European (Finnish)
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Other
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.646031471554557e-5
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num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele num: 66592
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East Asian
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Latino
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African
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Other
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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SIO_000300: 1.74e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

South Asian
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allele num: 16476
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.734003814808393e-4
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 37
allele frequency: 5.559896615976438e-4
allele num: 66548
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
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African
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allele num: 9754
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Other
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East Asian
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South Asian
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European (Finnish)
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

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

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

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

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

African
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allele frequency: 1.131920148178638e-3
allele num: 9718
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: 4.07e0

InbreedingCoeff
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SIO_000300: 1.3e-3

ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 4.452e0

MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.178646e6

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

Other
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num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele num: 9766
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 9.81e-1

MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66670
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

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

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

Other
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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SIO_000300: 2.465661e6

ReadPosRankSum
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SIO_000300: 1.65e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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DP
type: SiteQuality
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 3

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

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

European (Non-Finnish)
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allele num: 66698
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 3.29004329004329e-3
allele num: 11550
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East Asian
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 105

European (Non-Finnish)
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num of homozygotes: 0

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

South Asian
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European (Non-Finnish)
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allele num: 66728
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Latino
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African
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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MQRankSum
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SIO_000300: -4.59e-1

ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.9e-3

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -3.476e0

ReadPosRankSum
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SIO_000300: 9.2e-1

DP
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SIO_000300: 2.474142e6

FS
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SIO_000300: 5.735e0

GenotypeDepth
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variant carriers: 0

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

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -6.18e-1

FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 4.0e-3

MQRankSum
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ReadPosRankSum
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QD
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DP
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VQSLOD
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SIO_000300: 1.39e0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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num of homozygotes: 0

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

MQRankSum
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SIO_000300: -2.176e0

BaseQRankSum
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SIO_000300: 1.37e0

MQ
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SIO_000300: 6.0e1

FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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DP
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SIO_000300: 2.47577e6

InbreedingCoeff
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SIO_000300: 1.6e-3

QD
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SIO_000300: 1.367e1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 8.990380293086398e-5
allele num: 66738
num of homozygotes: 0

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

InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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MQ
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SIO_000300: 5.955e1

ClippingRankSum
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SIO_000300: -5.600000000000001e-1

FS
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SIO_000300: 3.662e0

MQRankSum
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SIO_000300: 3.1e-1

BaseQRankSum
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SIO_000300: 3.74e0

QD
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SIO_000300: 1.464e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

African
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

Other
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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European (Non-Finnish)
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num of homozygotes: 0

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

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

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

African
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East Asian
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South Asian
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Other
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European (Finnish)
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Latino
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
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Other
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

InbreedingCoeff
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SIO_000300: 5.1e-3

BaseQRankSum
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SIO_000300: -2.007e0

VQSLOD
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SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.094e1

DP
type: SiteQuality
SIO_000300: 2.476235e6

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.13e0

MQRankSum
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SIO_000300: 7.17e-1

VQSLOD
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SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 2.476235e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
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SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.653e0

DP
type: SiteQuality
SIO_000300: 2.475547e6

QD
type: SiteQuality
SIO_000300: 1.093e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.73e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.475044e6

MQRankSum
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SIO_000300: -1.042e0

BaseQRankSum
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SIO_000300: -6.605e0

VQSLOD
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SIO_000300: -1.795e0

MQ
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SIO_000300: 5.952e1

InbreedingCoeff
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SIO_000300: 9.0e-4

ClippingRankSum
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SIO_000300: -1.769e0

FS
type: SiteQuality
SIO_000300: 1.0209e1

QD
type: SiteQuality
SIO_000300: 1.236e1

ReadPosRankSum
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SIO_000300: 2.07e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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DP
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

Other
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African
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South Asian
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Latino
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num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele num: 66608
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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QD
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
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allele num: 6602
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Latino
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allele num: 11522
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African
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East Asian
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Other
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South Asian
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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East Asian
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African
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Latino
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South Asian
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Other
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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MQ
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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QD
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VQSLOD
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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Other
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East Asian
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African
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European (Non-Finnish)
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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SIO_000300: 7.93e-1

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

DP
type: SiteQuality
SIO_000300: 2.358781e6

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

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

Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.507886245061673e-5
allele num: 66318
num of homozygotes: 0

African
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South Asian
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Latino
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DP
type: SiteQuality
SIO_000300: 2.343609e6

VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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African
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Latino
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InbreedingCoeff
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DP
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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SIO_000300: 7.4e-1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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Other
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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allele num: 16336
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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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VQSLOD
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FS
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MQRankSum
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MQ
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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allele num: 16354
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Latino
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num of homozygotes: 0

East Asian
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African
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European (Finnish)
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Other
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Other
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Latino
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
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allele num: 888
num of homozygotes: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01504507492387e-5
allele num: 66334
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.359614e6

QD
type: SiteQuality
SIO_000300: 1.488e1

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e0

GenotypeDepth
all individuals: 1914
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507522537461935e-5
allele num: 66334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 2.359614e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
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SIO_000300: 6.73e-1

BaseQRankSum
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SIO_000300: 5.29e0

QD
type: SiteQuality
SIO_000300: 1.488e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.359939e6

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-1

ReadPosRankSum
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SIO_000300: -9.44e-1

FS
type: SiteQuality
SIO_000300: 1.788e0

BaseQRankSum
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SIO_000300: -4.849e0

QD
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SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 2167
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3254
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.049e0

FS
type: SiteQuality
SIO_000300: 5.538e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.371e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

MQ
type: SiteQuality
SIO_000300: 5.888e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.363411e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

VQSLOD
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

FS
type: SiteQuality
SIO_000300: 2.633e0

DP
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SIO_000300: 2.363995e6

BaseQRankSum
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SIO_000300: -3.489e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.024170421958214e-4
allele num: 9764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.4e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 3.747e0

MQRankSum
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SIO_000300: -3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

DP
type: SiteQuality
SIO_000300: 2.364541e6

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1202
bin: 5.75e1
variant carriers: 15

GenotypeDepth
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variant carriers: 7

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 7013
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 3236
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 125
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GenotypeQuality
all individuals: 2154
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 1490
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GenotypeQuality
all individuals: 16114
bin: 9.75e1
variant carriers: 379

GenotypeQuality
all individuals: 4076
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 389
allele frequency: 2.357861558976846e-2
allele num: 16498
num of homozygotes: 16

Latino
type: Population
allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.388267e6

VQSLOD
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SIO_000300: 6.17e0

MQ
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SIO_000300: 5.969e1

QD
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FS
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeDepth
all individuals: 1420
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1206
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variant carriers: 0

GenotypeDepth
all individuals: 2900
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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FS
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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Other
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South Asian
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FS
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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QD
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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MQRankSum
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DP
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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African
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South Asian
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Other
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Latino
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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DP
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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MQ
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6605
bin: 6.75e1
variant carriers: 0