17-1943094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943094
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943094
    reference: chr 17
allele count: 64
allele frequency: 5.303369296806378e-4
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.615C>T
  hgvsp: ENSP00000460431.2:p.Gln206Ter
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.501C>T
  hgvsp: ENST00000570477.1:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.741C>T
  hgvsp: ENST00000263083.6:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.248C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.704C>T
  hgvsp: ENST00000571418.1:c.704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.836C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.108C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 9.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln206Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-1943099-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943099
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943099
    reference: chr 17
allele count: 618
allele frequency: 5.12132060461416e-3
allele num: 120672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.506C>G
  hgvsp: ENSP00000458726.1:p.Pro169Arg
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.746C>G
  hgvsp: ENSP00000263083.6:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.620C>G
  hgvsp: ENST00000575667.1:c.620C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.253C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.113C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.841C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.709C>G
  hgvsp: ENSP00000458838.1:p.Pro237Arg
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 9.75e1
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro249Arg
num of homozygotes: 2
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-1943101-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943101
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943101
    reference: chr 17
allele count: 25
allele frequency: 2.071765973315654e-4
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.711A>C
  hgvsp: ENSP00000458838.1:p.Asn238His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.255A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.115A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.748A>C
  hgvsp: ENSP00000263083.6:p.Asn250His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.508A>C
  hgvsp: ENSP00000458726.1:p.Asn170His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.622A>C
  hgvsp: ENSP00000460431.2:p.Gln208Pro
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.843A>C
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49348
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn250His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

17-1943102-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943102
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943102
    reference: chr 17
allele count: 2
allele frequency: 1.657357840131263e-5
allele num: 120674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.623A>G
  hgvsp: ENST00000575667.1:c.623A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.509A>G
  hgvsp: ENSP00000458726.1:p.Asn170Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.712A>G
  hgvsp: ENSP00000458838.1:p.Asn238Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.749A>G
  hgvsp: ENSP00000263083.6:p.Asn250Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.844A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.116A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.256A>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn250Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

17-1943104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943104
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943104
    reference: chr 17
allele count: 2
allele frequency: 1.657495193263939e-5
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.714G>A
  hgvsp: ENSP00000458838.1:p.Val239Ile
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.118G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.625G>A
  hgvsp: ENSP00000460431.2:p.Cys209Tyr
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.751G>A
  hgvsp: ENSP00000263083.6:p.Val251Ile
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.511G>A
  hgvsp: ENSP00000458726.1:p.Val171Ile
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.846G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.258G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val251Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

17-1943109-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943109
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943109
    reference: chr 17
allele count: 4
allele frequency: 3.315539935678525e-5
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.516C>T
  hgvsp: ENST00000570477.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.123C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.719C>T
  hgvsp: ENST00000571418.1:c.719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.630C>T
  hgvsp: ENSP00000460431.2:p.Arg211Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.756C>T
  hgvsp: ENST00000263083.6:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.851C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.263C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49337
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg211Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

17-1943110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943110
    reference: chr 17
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.264G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.124G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.852G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.720G>A
  hgvsp: ENSP00000458838.1:p.Ala241Thr
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.631G>A
  hgvsp: ENSP00000460431.2:p.Arg211His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.517G>A
  hgvsp: ENSP00000458726.1:p.Ala173Thr
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.757G>A
  hgvsp: ENSP00000263083.6:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala253Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

17-1943110-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943110
    reference: chr 17
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.720G>T
  hgvsp: ENSP00000458838.1:p.Ala241Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.631G>T
  hgvsp: ENSP00000460431.2:p.Arg211Leu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.517G>T
  hgvsp: ENSP00000458726.1:p.Ala173Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.852G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.757G>T
  hgvsp: ENSP00000263083.6:p.Ala253Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.124G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.264G>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala253Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-1943116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943116
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943116
    reference: chr 17
allele count: 2
allele frequency: 1.657879903179814e-5
allele num: 120636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.523C>T
  hgvsp: ENSP00000458726.1:p.Arg175Trp
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.130C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.637C>T
  hgvsp: ENSP00000460431.2:p.Pro213Leu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.858C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.726C>T
  hgvsp: ENSP00000458838.1:p.Arg243Trp
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.270C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.763C>T
  hgvsp: ENSP00000263083.6:p.Arg255Trp
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg255Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

17-1943118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943118
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943118
    reference: chr 17
allele count: 2
allele frequency: 1.65809981760902e-5
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+1G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+1G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+1G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+1G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+1G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+1G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+1G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 9.25e1
  variant carriers: 0
hgvs: c.764+1G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-1943121-TGGGCTGGGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943111
    reference: chr 17
allele count: 3
allele frequency: 2.48714972641353e-5
allele num: 120620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 9.25e1
  variant carriers: 0
hgvs: c.764+14_764+23delCGGGCTGGGC
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: TGGGCTGGGCC
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-1943121-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943121
    reference: chr 17
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+4T>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+4T>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+4T>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+4T>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+4T>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+4T>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+4T>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
hgvs: c.764+4T>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-1943121-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943121
    reference: chr 17
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+4T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+4T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+4T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+4T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+4T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+4T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+4T>C
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
hgvs: c.764+4T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-1943121-T-TGGGCTGGGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943131
    reference: chr 17
allele count: 2
allele frequency: 1.65809981760902e-5
allele num: 120620
alternate allele: TGGGCTGGGCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49340
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-1943126-T-TGGGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943131
    reference: chr 17
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: TGGGCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+14_859+18dupCGGGC
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+14_764+18dupCGGGC
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+14_524+18dupCGGGC
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+14_638+18dupCGGGC
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+14_131+18dupCGGGC
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+14_727+18dupCGGGC
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+14_271+18dupCGGGC
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-1943131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943131
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943131
    reference: chr 17
allele count: 5
allele frequency: 4.14621202069789e-5
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+14C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+14C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+14C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+14C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+14C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+14C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+14C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-1943134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943134
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943134
    reference: chr 17
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+17G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+17G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+17G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+17G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+17G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+17G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+17G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-1943137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943137
    reference: chr 17
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+20G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+20G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+20G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+20G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+20G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+20G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+20G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

17-1943149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943149
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943149
    reference: chr 17
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+32T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+32T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+32T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+32T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+32T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+32T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+32T>C
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-1943154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943154
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943154
    reference: chr 17
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+37A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+37A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+37A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+37A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+37A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+37A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+37A>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4673
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-1943156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943156
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943156
    reference: chr 17
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+39G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+39G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+39G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+39G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+39G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+39G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+39G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-1943157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943157
    reference: chr 17
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+40G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+40G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+40G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+40G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+40G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+40G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+40G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

17-1943157-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943157
    reference: chr 17
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+40G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+40G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+40G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+40G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+40G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+40G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+40G>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

17-1943165-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943165
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943165
    reference: chr 17
allele count: 231
allele frequency: 1.963751360174102e-3
allele num: 117632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+48T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+48T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+48T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+48T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+48T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+48T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+48T>C
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 48901
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 6.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 18
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-1943166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943166
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943166
    reference: chr 17
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+49C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+49C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+49C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+49C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+49C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+49C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+49C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-1943167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943167
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943167
    reference: chr 17
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+50C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+50C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+50C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+50C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+50C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+50C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+50C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50656
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-1943168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943168
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943168
    reference: chr 17
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.638+51C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.524+51C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.764+51C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.131+51C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.727+51C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.859+51C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.271+51C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/17-1943482-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943482
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943482
    reference: chr 17
allele count: 2
allele frequency: 1.765973227845866e-5
allele num: 113252
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-30C>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-30C>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-30C>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-30C>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-30C>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-30C>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-30C>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33233
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-1943482-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943482
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943482
    reference: chr 17
allele count: 1042
allele frequency: 9.200720517076962e-3
allele num: 113252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-30C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-30C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-30C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-30C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-30C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-30C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-30C>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 6.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 3.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 4.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 3.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 6.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 5.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 5.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 4.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 6.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 16
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-1943484-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943484
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943484
    reference: chr 17
allele count: 4
allele frequency: 3.345712469470374e-5
allele num: 119556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-28A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-28A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-28A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-28A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-28A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-28A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-28A>C
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-1943484-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943484
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943484
    reference: chr 17
allele count: 1
allele frequency: 8.364281173675934e-6
allele num: 119556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-28A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-28A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-28A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-28A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-28A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-28A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-28A>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

17-1943488-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943488
    reference: chr 17
allele count: 2
allele frequency: 1.670285618840822e-5
allele num: 119740
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-24T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-24T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-24T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-24T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-24T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-24T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-24T>C
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-1943488-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943488
    reference: chr 17
allele count: 2
allele frequency: 1.670285618840822e-5
allele num: 119740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-24T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-24T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-24T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-24T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-24T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-24T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-24T>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-1943491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943491
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943491
    reference: chr 17
allele count: 1
allele frequency: 8.343206127250579e-6
allele num: 119858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-21C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-21C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-21C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-21C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-21C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-21C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-21C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

17-1943492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943492
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943492
    reference: chr 17
allele count: 2
allele frequency: 1.668028890260379e-5
allele num: 119902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-20C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-20C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-20C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-20C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-20C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-20C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-20C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34503
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-1943499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943499
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943499
    reference: chr 17
allele count: 1
allele frequency: 8.323761008173934e-6
allele num: 120138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-13G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-13G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-13G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-13G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-13G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-13G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-13G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-1943499-GCTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943499
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943496
    reference: chr 17
allele count: 1
allele frequency: 8.323761008173934e-6
allele num: 120138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-9_860-7delCTT
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-9_728-7delCTT
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-9_765-7delCTT
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-9_272-7delCTT
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-9_525-7delCTT
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-9_639-7delCTT
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-9_132-7delCTT
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: GCTT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

17-1943500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943500
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943500
    reference: chr 17
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-12C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-12C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-12C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-12C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-12C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-12C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-12C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-1943502-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943502
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943502
    reference: chr 17
allele count: 2
allele frequency: 1.663810458712543e-5
allele num: 120206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.639-10T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.728-10T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.272-10T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.765-10T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.132-10T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.860-10T>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.525-10T>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34503
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-1943516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943516
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943516
    reference: chr 17
allele count: 23
allele frequency: 1.910552897395003e-4
allele num: 120384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.643G>A
  hgvsp: ENST00000575667.1:c.643G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.276G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.864G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.529G>A
  hgvsp: ENSP00000458726.1:p.Asp177Asn
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.769G>A
  hgvsp: ENSP00000263083.6:p.Asp257Asn
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.732G>A
  hgvsp: ENSP00000458838.1:p.Asp245Asn
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.136G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7466
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp257Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

17-1943521-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943521
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943521
    reference: chr 17
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.774A>G
  hgvsp: ENST00000263083.6:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.534A>G
  hgvsp: ENST00000570477.1:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.737A>G
  hgvsp: ENST00000571418.1:c.737A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.869A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.281A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.141A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*4A>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro258Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-1943523-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943523
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943523
    reference: chr 17
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.283A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.536A>C
  hgvsp: ENSP00000458726.1:p.Tyr179Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.739A>C
  hgvsp: ENSP00000458838.1:p.Tyr247Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.871A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*6A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.143A>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.776A>C
  hgvsp: ENSP00000263083.6:p.Tyr259Ser
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr259Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-1943525-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943525
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943525
    reference: chr 17
allele count: 39
allele frequency: 3.237159268235997e-4
allele num: 120476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.741A>G
  hgvsp: ENSP00000458838.1:p.Ser248Gly
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.145A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*8A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.538A>G
  hgvsp: ENSP00000458726.1:p.Ser180Gly
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.285A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.778A>G
  hgvsp: ENSP00000263083.6:p.Ser260Gly
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.873A>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser260Gly
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

17-1943538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943538
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943538
    reference: chr 17
allele count: 5
allele frequency: 4.148069488460071e-5
allele num: 120538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.551C>T
  hgvsp: ENSP00000458726.1:p.Ser184Phe
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.158C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.754C>T
  hgvsp: ENSP00000458838.1:p.Ser252Phe
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.298C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.886C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.791C>T
  hgvsp: ENSP00000263083.6:p.Ser264Phe
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34507
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser264Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-1943546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943546
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943546
    reference: chr 17
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.894C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.559C>T
  hgvsp: ENSP00000458726.1:p.His187Tyr
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.306C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.166C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.762C>T
  hgvsp: ENSP00000458838.1:p.His255Tyr
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.799C>T
  hgvsp: ENSP00000263083.6:p.His267Tyr
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His267Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-1943548-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943548
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943548
    reference: chr 17
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*31C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.764C>G
  hgvsp: ENSP00000458838.1:p.His255Gln
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.801C>G
  hgvsp: ENSP00000263083.6:p.His267Gln
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.168C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.561C>G
  hgvsp: ENSP00000458726.1:p.His187Gln
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.308C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.896C>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8546
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His267Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

17-1943551-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943551
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943551
    reference: chr 17
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.564T>C
  hgvsp: ENST00000570477.1:c.564T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.311T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.767T>C
  hgvsp: ENST00000571418.1:c.767T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.804T>C
  hgvsp: ENST00000263083.6:c.804T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.171T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.899T>C
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr268Tyr
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: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

17-1943559-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943559
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943559
    reference: chr 17
allele count: 2
allele frequency: 1.658952537367906e-5
allele num: 120558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.179A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.319A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.775A>G
  hgvsp: ENSP00000458838.1:p.Gln259Arg
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.812A>G
  hgvsp: ENSP00000263083.6:p.Gln271Arg
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.907A>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.572A>G
  hgvsp: ENSP00000458726.1:p.Gln191Arg
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*42A>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln271Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-1943560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943560
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943560
    reference: chr 17
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.320G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.573G>A
  hgvsp: ENST00000570477.1:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*43G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.813G>A
  hgvsp: ENST00000263083.6:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.908G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.776G>A
  hgvsp: ENST00000571418.1:c.776G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.180G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln271Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-1943561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943561
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943561
    reference: chr 17
allele count: 2
allele frequency: 1.658842459731599e-5
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.321C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.814C>T
  hgvsp: ENSP00000263083.6:p.Arg272Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.777C>T
  hgvsp: ENSP00000458838.1:p.Arg260Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.574C>T
  hgvsp: ENSP00000458726.1:p.Arg192Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.181C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.909C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg272Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

17-1943567-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943567
    reference: chr 17
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.327C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.580C>G
  hgvsp: ENSP00000458726.1:p.Gln194Glu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.915C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.820C>G
  hgvsp: ENSP00000263083.6:p.Gln274Glu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*50C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.783C>G
  hgvsp: ENSP00000458838.1:p.Gln262Glu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.187C>G
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8340
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln274Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

17-1943569-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943569
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943569
    reference: chr 17
allele count: 2
allele frequency: 1.659172736473594e-5
allele num: 120542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*52G>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.822G>C
  hgvsp: ENSP00000263083.6:p.Gln274His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.329G>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.189G>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.582G>C
  hgvsp: ENSP00000458726.1:p.Gln194His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.917G>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.785G>C
  hgvsp: ENSP00000458838.1:p.Gln262His
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln274His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

17-1943573-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943573
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943573
    reference: chr 17
allele count: 3
allele frequency: 2.489337338400518e-5
allele num: 120514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*56G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.789G>T
  hgvsp: ENSP00000458838.1:p.Ala264Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.333G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.586G>T
  hgvsp: ENSP00000458726.1:p.Ala196Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.826G>T
  hgvsp: ENSP00000263083.6:p.Ala276Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.921G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.193G>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala276Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-1943576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943576
    reference: chr 17
allele count: 2
allele frequency: 1.66013679527193e-5
allele num: 120472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.336C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.589C>T
  hgvsp: ENSP00000458726.1:p.Arg197Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.924C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.829C>T
  hgvsp: ENSP00000263083.6:p.Arg277Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.196C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.792C>T
  hgvsp: ENSP00000458838.1:p.Arg265Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*59C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34502
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg277Cys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-1943577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943577
    reference: chr 17
allele count: 5
allele frequency: 4.153030881937638e-5
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.337G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.197G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*60G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.830G>A
  hgvsp: ENSP00000263083.6:p.Arg277His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.925G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.793G>A
  hgvsp: ENSP00000458838.1:p.Arg265His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.590G>A
  hgvsp: ENSP00000458726.1:p.Arg197His
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg277His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-1943582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943582
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943582
    reference: chr 17
allele count: 15
allele frequency: 1.260440650051258e-4
allele num: 119006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*65G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.798G>A
  hgvsp: ENSP00000458838.1:p.Glu267Lys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.342G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.202G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.835G>A
  hgvsp: ENSP00000263083.6:p.Glu279Lys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.930G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.595G>A
  hgvsp: ENSP00000458726.1:p.Glu199Lys
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Glu279Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-1943592-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943592
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943592
    reference: chr 17
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.845C>G
  hgvsp: ENSP00000263083.6:p.Ala282Gly
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.940C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.212C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.352C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.808C>G
  hgvsp: ENSP00000458838.1:p.Ala270Gly
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*75C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.605C>G
  hgvsp: ENSP00000458726.1:p.Ala202Gly
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala282Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-1943597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943597
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943597
    reference: chr 17
allele count: 12
allele frequency: 9.964956569397618e-5
allele num: 120422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.357G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.945G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.610G>A
  hgvsp: ENSP00000458726.1:p.Ala204Thr
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.850G>A
  hgvsp: ENSP00000263083.6:p.Ala284Thr
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.217G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.813G>A
  hgvsp: ENSP00000458838.1:p.Ala272Thr
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*80G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala284Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-1943600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943600
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943600
    reference: chr 17
allele count: 2
allele frequency: 1.660853678790898e-5
allele num: 120420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.816C>T
  hgvsp: ENSP00000458838.1:p.Arg273Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.360C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.613C>T
  hgvsp: ENSP00000458726.1:p.Arg205Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.948C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.853C>T
  hgvsp: ENSP00000263083.6:p.Arg285Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*83C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.220C>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg285Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-1943601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943601
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943601
    reference: chr 17
allele count: 2
allele frequency: 1.660991611992359e-5
allele num: 120410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.949G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.361G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.614G>A
  hgvsp: ENSP00000458726.1:p.Arg205His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*84G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.221G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.854G>A
  hgvsp: ENSP00000263083.6:p.Arg285His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.817G>A
  hgvsp: ENSP00000458838.1:p.Arg273His
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34557
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg285His
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

17-1943601-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943601
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943601
    reference: chr 17
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.817G>T
  hgvsp: ENSP00000458838.1:p.Arg273Leu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*84G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.361G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.949G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.614G>T
  hgvsp: ENSP00000458726.1:p.Arg205Leu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.221G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.854G>T
  hgvsp: ENSP00000263083.6:p.Arg285Leu
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg285Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

17-1943606-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943606
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943606
    reference: chr 17
allele count: 19
allele frequency: 1.57817795202339e-4
allele num: 120392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.859G>T
  hgvsp: ENSP00000263083.6:p.Ala287Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.366G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*89G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.226G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.954G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.619G>T
  hgvsp: ENSP00000458726.1:p.Ala207Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.822G>T
  hgvsp: ENSP00000458838.1:p.Ala275Ser
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34556
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala287Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-1943618-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943618
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943618
    reference: chr 17
allele count: 2
allele frequency: 1.661681621801263e-5
allele num: 120360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*101G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.378G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.238G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.871G>T
  hgvsp: ENSP00000263083.6:p.Gly291Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.966G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.834G>T
  hgvsp: ENSP00000458838.1:p.Gly279Cys
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.631G>T
  hgvsp: ENSP00000458726.1:p.Gly211Cys
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly291Cys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

17-1943620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943620
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943620
    reference: chr 17
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.873C>T
  hgvsp: ENST00000263083.6:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.836C>T
  hgvsp: ENST00000571418.1:c.836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.968C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.380C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*103C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.240C>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.633C>T
  hgvsp: ENST00000570477.1:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly291Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-1943627-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943627
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943627
    reference: chr 17
allele count: 2
allele frequency: 1.662620955674525e-5
allele num: 120292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.387C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.880C>G
  hgvsp: ENSP00000263083.6:p.Leu294Val
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.247C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.975C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.843C>G
  hgvsp: ENSP00000458838.1:p.Leu282Val
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*110C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.640C>G
  hgvsp: ENSP00000458726.1:p.Leu214Val
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu294Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

17-1943629-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943629
    reference: chr 17
allele count: 17
allele frequency: 1.4138860241525e-4
allele num: 120236
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.977G>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.882G>C
  hgvsp: ENST00000263083.6:c.882G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.389G>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.845G>C
  hgvsp: ENST00000571418.1:c.845G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.642G>C
  hgvsp: ENST00000570477.1:c.642G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*112G>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.249G>C
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu294Leu
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: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

17-1943632-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943632
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943632
    reference: chr 17
allele count: 13
allele frequency: 1.081368846595352e-4
allele num: 120218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*115C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.392C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.645C>G
  hgvsp: ENST00000570477.1:c.645C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.980C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.885C>G
  hgvsp: ENST00000263083.6:c.885C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.252C>G
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.848C>G
  hgvsp: ENST00000571418.1:c.848C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly295Gly
num of homozygotes: 1
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

17-1943633-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943633
    reference: chr 17
allele count: 1
allele frequency: 8.319744417451495e-6
allele num: 120196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.253A>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.886A>T
  hgvsp: ENSP00000263083.6:p.Thr296Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.646A>T
  hgvsp: ENSP00000458726.1:p.Thr216Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.393A>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.849A>T
  hgvsp: ENSP00000458838.1:p.Thr284Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.981A>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*116A>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7973
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr296Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-1943637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943637
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943637
    reference: chr 17
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.890T>C
  hgvsp: ENSP00000263083.6:p.Leu297Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.397T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.853T>C
  hgvsp: ENSP00000458838.1:p.Leu285Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460813
  ensembl transcript: ENST00000571710
  gene symbol: DPH1
  hgvsc: ENST00000571710.1:c.4T>C
  hgvsp: ENSP00000460813.1:p.Leu2Ser
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.985T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*120T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.257T>C
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.650T>C
  hgvsp: ENSP00000458726.1:p.Leu217Ser
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu297Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-1943643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943643
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943643
    reference: chr 17
allele count: 2
allele frequency: 1.665057111458923e-5
allele num: 120116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.896G>A
  hgvsp: ENSP00000263083.6:p.Arg299His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.403G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.656G>A
  hgvsp: ENSP00000458726.1:p.Arg219His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*126G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.991G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460813
  ensembl transcript: ENST00000571710
  gene symbol: DPH1
  hgvsc: ENST00000571710.1:c.10G>A
  hgvsp: ENSP00000460813.1:p.Arg4His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.859G>A
  hgvsp: ENSP00000458838.1:p.Arg287His
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.263G>A
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg299His
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-1943643-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943643
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943643
    reference: chr 17
allele count: 1
allele frequency: 8.325285557294615e-6
allele num: 120116
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.896G>T
  hgvsp: ENSP00000263083.6:p.Arg299Leu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460813
  ensembl transcript: ENST00000571710
  gene symbol: DPH1
  hgvsc: ENST00000571710.1:c.10G>T
  hgvsp: ENSP00000460813.1:p.Arg4Leu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.991G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*126G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.859G>T
  hgvsp: ENSP00000458838.1:p.Arg287Leu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.263G>T
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.656G>T
  hgvsp: ENSP00000458726.1:p.Arg219Leu
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.403G>T
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg299Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

17-1943668-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1943668
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 1943668
    reference: chr 17
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000263083
  ensembl transcript: ENST00000263083
  gene symbol: DPH1
  hgvsc: ENST00000263083.6:c.921G>A
  hgvsp: ENST00000263083.6:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458726
  ensembl transcript: ENST00000570477
  gene symbol: DPH1
  hgvsc: ENST00000570477.1:c.681G>A
  hgvsp: ENST00000570477.1:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000575998
  gene symbol: DPH1
  hgvsc: ENST00000575998.1:n.428G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460431
  ensembl transcript: ENST00000575667
  gene symbol: DPH1
  hgvsc: ENST00000575667.1:c.*151G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000570867
  gene symbol: DPH1
  hgvsc: ENST00000570867.1:n.1016G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108963
  ensembl transcript: ENST00000572214
  gene symbol: DPH1
  hgvsc: ENST00000572214.1:n.288G>A
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000458838
  ensembl transcript: ENST00000571418
  gene symbol: DPH1
  hgvsc: ENST00000571418.1:c.884G>A
  hgvsp: ENST00000571418.1:c.884G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108963
  ensembl protein: ENSP00000460813
  ensembl transcript: ENST00000571710
  gene symbol: DPH1
  hgvsc: ENST00000571710.1:c.35G>A
  hgvsp: ENST00000571710.1:c.35G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3003
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 4.25e1
  variant carriers: 0
hgvs: c.921G>A
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 887
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49445
bin: 9.75e1
variant carriers: 64

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3304
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 49
allele frequency: 7.350514536017521e-4
allele num: 66662
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.06435137895812e-4
allele num: 9790
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: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.84e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.336e0

DP
type: SiteQuality
SIO_000300: 4.133347e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49486
bin: 9.75e1
variant carriers: 616

Latino
type: Population
allele count: 23
allele frequency: 1.987212718161396e-3
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 8.888888888888889e-3
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 1.965527668581796e-3
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

African
type: Population
allele count: 8
allele frequency: 8.173273395995096e-4
allele num: 9788
num of homozygotes: 0

South Asian
type: Population
allele count: 99
allele frequency: 5.995639534883721e-3
allele num: 16512
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 467
allele frequency: 7.005910768399892e-3
allele num: 66658
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

DP
type: SiteQuality
SIO_000300: 4.156988e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 1.914e0

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

MQ
type: SiteQuality
SIO_000300: 5.852e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1326
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.001140216641162e-5
allele num: 66654
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.090116279069767e-3
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 4.087095e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 1.162e0

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49340
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.865e1

FS
type: SiteQuality
SIO_000300: 5.71e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

VQSLOD
type: SiteQuality
SIO_000300: -5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e0

DP
type: SiteQuality
SIO_000300: 4.084721e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49339
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 2.043318348998774e-4
allele num: 9788
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.084278e6

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.075e-1

MQ
type: SiteQuality
SIO_000300: 5.854e1

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 1.179e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.318e0

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.022076860179886e-4
allele num: 9784
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.835e1

DP
type: SiteQuality
SIO_000300: 4.083702e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
type: SiteQuality
SIO_000300: -5.044e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
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: 1.022076860179886e-4
allele num: 9784
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.656e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.4e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

DP
type: SiteQuality
SIO_000300: 4.083199e6

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 49338
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.022076860179886e-4
allele num: 9784
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.656e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

QD
type: SiteQuality
SIO_000300: 1.4e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

DP
type: SiteQuality
SIO_000300: 4.083199e6

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49336
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001741009785676e-5
allele num: 66628
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 8624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.082177e6

QD
type: SiteQuality
SIO_000300: 1.393e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

FS
type: SiteQuality
SIO_000300: 5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

GenotypeQuality
all individuals: 1326
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49336
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.785e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 4.081725e6

VQSLOD
type: SiteQuality
SIO_000300: -1.469e0

QD
type: SiteQuality
SIO_000300: 1.015e1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 1.428e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49340
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.333e0

QD
type: SiteQuality
SIO_000300: 5.27e0

FS
type: SiteQuality
SIO_000300: 2.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.287e1

DP
type: SiteQuality
SIO_000300: 4.081238e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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: 49340
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3113
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 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: 8624
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.333e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.287e1

FS
type: SiteQuality
SIO_000300: 2.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 4.081238e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

QD
type: SiteQuality
SIO_000300: 5.27e0

GenotypeQuality
all individuals: 3113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 181
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variant carriers: 0

GenotypeQuality
all individuals: 49340
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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: 8624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.57e0

MQ
type: SiteQuality
SIO_000300: 5.287e1

QD
type: SiteQuality
SIO_000300: 5.27e0

MQRankSum
type: SiteQuality
SIO_000300: -5.333e0

DP
type: SiteQuality
SIO_000300: 4.081238e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 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: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.081238e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

MQ
type: SiteQuality
SIO_000300: 5.287e1

MQRankSum
type: SiteQuality
SIO_000300: -5.333e0

QD
type: SiteQuality
SIO_000300: 5.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 2.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

GenotypeQuality
all individuals: 3038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49327
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 889
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 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: 8624
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 2.523e0

MQ
type: SiteQuality
SIO_000300: 5.311e1

MQRankSum
type: SiteQuality
SIO_000300: -3.534e0

DP
type: SiteQuality
SIO_000300: 4.079029e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 9.68e0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49326
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.043735949315349e-4
allele num: 9786
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 2.481e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 4.078369e6

QD
type: SiteQuality
SIO_000300: 1.205e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.763e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.837e0

QD
type: SiteQuality
SIO_000300: 1.167e1

FS
type: SiteQuality
SIO_000300: 3.501e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 4.077634e6

GenotypeQuality
all individuals: 1410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 98
bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.076132e6

QD
type: SiteQuality
SIO_000300: 1.673e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.82e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.76e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.863e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.3666e1

GenotypeQuality
all individuals: 1407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.118e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.066264e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.063511e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.584e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

FS
type: SiteQuality
SIO_000300: 4.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.247e0

QD
type: SiteQuality
SIO_000300: 1.275e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49296
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2586
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.684e1

VQSLOD
type: SiteQuality
SIO_000300: -1.204e0

DP
type: SiteQuality
SIO_000300: 4.062954e6

FS
type: SiteQuality
SIO_000300: 4.098e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 1.211e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49297
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.256e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

DP
type: SiteQuality
SIO_000300: 4.061988e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.254e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49297
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.061988e6

QD
type: SiteQuality
SIO_000300: 1.256e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

FS
type: SiteQuality
SIO_000300: 1.254e0

GenotypeQuality
all individuals: 406
bin: 2.25e1
variant carriers: 15

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 16

GenotypeQuality
all individuals: 636
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 249
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 410
bin: 3.25e1
variant carriers: 15

GenotypeQuality
all individuals: 237
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 779
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 962
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 337
bin: 4.25e1
variant carriers: 15

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 13

Other
type: Population
allele count: 4
allele frequency: 4.705882352941176e-3
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.347826086956522e-4
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.842486562280906e-4
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 3.015941404566997e-3
allele num: 9284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 65
allele frequency: 1.057942708333333e-2
allele num: 6144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 122
allele frequency: 1.883064765079953e-3
allele num: 64788
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.1611e1

VQSLOD
type: SiteQuality
SIO_000300: -3.483e0

MQ
type: SiteQuality
SIO_000300: 5.821e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

QD
type: SiteQuality
SIO_000300: 8.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 4.051678e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e0

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50655
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1154
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.75e1
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: 8620
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -5.169e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

DP
type: SiteQuality
SIO_000300: 4.103151e6

FS
type: SiteQuality
SIO_000300: 1.511e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

GenotypeQuality
all individuals: 1485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 1.023751023751024e-4
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 2.136e0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.619e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

DP
type: SiteQuality
SIO_000300: 4.103554e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.953e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 1310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50655
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1487
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 4.103715e6

VQSLOD
type: SiteQuality
SIO_000300: -3.985e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 2.437e0

QD
type: SiteQuality
SIO_000300: 1.552e1

GenotypeQuality
all individuals: 2791
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1838
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.21254176304292e-5
allele num: 62256
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.719228e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

QD
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.402e0

VQSLOD
type: SiteQuality
SIO_000300: -8.684e1

FS
type: SiteQuality
SIO_000300: 1.33315e2

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e0

GenotypeQuality
all individuals: 2980
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 133
bin: 1.25e1
variant carriers: 22

GenotypeQuality
all individuals: 5923
bin: 6.25e1
variant carriers: 28

GenotypeQuality
all individuals: 507
bin: 3.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1838
bin: 8.75e1
variant carriers: 29

GenotypeQuality
all individuals: 2791
bin: 8.25e1
variant carriers: 27

GenotypeQuality
all individuals: 262
bin: 4.75e1
variant carriers: 30

GenotypeQuality
all individuals: 33233
bin: 9.75e1
variant carriers: 634

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 36

GenotypeQuality
all individuals: 3002
bin: 9.25e1
variant carriers: 28

Other
type: Population
allele count: 15
allele frequency: 1.865671641791045e-2
allele num: 804
num of homozygotes: 0

African
type: Population
allele count: 172
allele frequency: 2.001396323016058e-2
allele num: 8594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 196
allele frequency: 3.481349911190054e-2
allele num: 5630
num of homozygotes: 0

East Asian
type: Population
allele count: 20
allele frequency: 2.359603586597452e-3
allele num: 8476
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.664622393551779e-3
allele num: 11414
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.109839532280134e-4
allele num: 16078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 615
allele frequency: 9.878565921356977e-3
allele num: 62256
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.684e1

MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 2.719228e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

FS
type: SiteQuality
SIO_000300: 1.33315e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.402e0

QD
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1929
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34451
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3130
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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European (Finnish)
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allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027092477675193e-5
allele num: 66070
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.029866117404737e-4
allele num: 9710
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

FS
type: SiteQuality
SIO_000300: 2.661e0

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

QD
type: SiteQuality
SIO_000300: 5.38e0

VQSLOD
type: SiteQuality
SIO_000300: -2.22e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.211e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-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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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

FS
type: SiteQuality
SIO_000300: 2.661e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

DP
type: SiteQuality
SIO_000300: 2.692663e6

VQSLOD
type: SiteQuality
SIO_000300: -2.22e0

QD
type: SiteQuality
SIO_000300: 5.38e0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.519295047098146e-4
allele num: 6582
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.223e0

BaseQRankSum
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SIO_000300: -1.732e0

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQRankSum
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SIO_000300: -4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.961e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.882e1

DP
type: SiteQuality
SIO_000300: 2.697435e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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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: 8618
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.022791850553171e-5
allele num: 66164
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.223e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.882e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.961e-1

DP
type: SiteQuality
SIO_000300: 2.697435e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 104
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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: 1
allele frequency: 6.16370808678501e-5
allele num: 16224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.646e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.299e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

QD
type: SiteQuality
SIO_000300: 1.219e1

MQ
type: SiteQuality
SIO_000300: 5.882e1

VQSLOD
type: SiteQuality
SIO_000300: -4.694e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 2.70181e6

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: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.2306177701206e-4
allele num: 16252
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

FS
type: SiteQuality
SIO_000300: 6.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.21e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.014999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.917e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
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SIO_000300: 2.27e0

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: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

East Asian
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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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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507977199384745e-5
allele num: 66314
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66322
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.103515625e-5
allele num: 16384
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507340749449821e-5
allele num: 66342
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.89e0

DP
type: SiteQuality
SIO_000300: 2.713035e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3149
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.333980111569246e-3
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.648e0

QD
type: SiteQuality
SIO_000300: 1.168e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 2.719347e6

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 3152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3116
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
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: 8622
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.720122e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.244e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.994e0

VQSLOD
type: SiteQuality
SIO_000300: -8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
all individuals: 3732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8473
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.385e0

DP
type: SiteQuality
SIO_000300: 2.720529e6

QD
type: SiteQuality
SIO_000300: 1.016e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 8503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34519
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 2129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 37
allele frequency: 3.780911506233395e-3
allele num: 9786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

FS
type: SiteQuality
SIO_000300: 1.107e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 2.722214e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2864
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.102e0

QD
type: SiteQuality
SIO_000300: 1.276e1

DP
type: SiteQuality
SIO_000300: 2.721621e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.59e0

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8535
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 8624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0063e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.737000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

DP
type: SiteQuality
SIO_000300: 2.721432e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

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

GenotypeQuality
all individuals: 157
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
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: 8624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 2.484e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.99e-1

DP
type: SiteQuality
SIO_000300: 2.721364e6

QD
type: SiteQuality
SIO_000300: 1.053e1

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

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3759
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.669e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 2.721302e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34504
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2864
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004536850644473e-5
allele num: 66566
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

FS
type: SiteQuality
SIO_000300: 1.758e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

DP
type: SiteQuality
SIO_000300: 2.72106e6

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
all individuals: 3125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34505
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2864
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

FS
type: SiteQuality
SIO_000300: 4.948e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

DP
type: SiteQuality
SIO_000300: 2.72089e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.858e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.721014e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.502e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.532e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

DP
type: SiteQuality
SIO_000300: 2.719349e6

FS
type: SiteQuality
SIO_000300: 4.679e0

VQSLOD
type: SiteQuality
SIO_000300: 8.46e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005349522149426e-5
allele num: 66548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.089e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

DP
type: SiteQuality
SIO_000300: 2.71883e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.036e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 4.401e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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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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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 281
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variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
SIO_000300: 1.979e0

QD
type: SiteQuality
SIO_000300: 1.129e1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.963e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 2.717561e6

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 3114
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 8006
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variant carriers: 0

GenotypeQuality
all individuals: 2855
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variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025220422390814e-4
allele num: 9754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 3.128e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: -1.131e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.97e-1

DP
type: SiteQuality
SIO_000300: 2.716406e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7874
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019925954910755e-5
allele num: 66446
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 4.05e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 2.715803e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.982251227470952e-4
allele num: 65582
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.140869192892314e-4
allele num: 9342
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.528e1

VQSLOD
type: SiteQuality
SIO_000300: -7.123e0

FS
type: SiteQuality
SIO_000300: 6.1535e1

QD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e0

DP
type: SiteQuality
SIO_000300: 2.739285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.546e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 11570
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: -1.937e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

FS
type: SiteQuality
SIO_000300: 9.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.719365e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.728e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2002
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.805543017062382e-4
allele num: 66462
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 2.719587e6

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.814e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34559
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
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: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.285e0

MQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

QD
type: SiteQuality
SIO_000300: 1.909e1

DP
type: SiteQuality
SIO_000300: 2.7186e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 341
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.026272577996716e-4
allele num: 9744
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.945e0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 1.169e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.218e1

DP
type: SiteQuality
SIO_000300: 2.718487e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 34557
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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

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

DP
type: SiteQuality
SIO_000300: 2.718487e6

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.218e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.945e0

FS
type: SiteQuality
SIO_000300: 1.169e0

GenotypeQuality
all individuals: 2006
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.08768267223382e-3
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.165e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.264e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

DP
type: SiteQuality
SIO_000300: 2.71812e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.482e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34547
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3151
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3618
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

DP
type: SiteQuality
SIO_000300: 2.71491e6

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 1.737e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 3.893e0

DP
type: SiteQuality
SIO_000300: 2.714421e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.316e0

VQSLOD
type: SiteQuality
SIO_000300: -1.153e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

GenotypeQuality
all individuals: 34545
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3093
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

MQ
type: SiteQuality
SIO_000300: 6.009e1

DP
type: SiteQuality
SIO_000300: 2.71265e6

QD
type: SiteQuality
SIO_000300: 1.345e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 4.791e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

GenotypeQuality
all individuals: 2809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34550
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 16
allele frequency: 1.649484536082474e-3
allele num: 9700
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 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: 892
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 2.711804e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.051e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.686e0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34537
bin: 9.75e1
variant carriers: 12

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2008
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.873062015503876e-4
allele num: 16512
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.662e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 2.710389e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

QD
type: SiteQuality
SIO_000300: 1.527e1

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 3154
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 34533
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3090
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.03e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -1.716e0

MQRankSum
type: SiteQuality
SIO_000300: -2.274e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

DP
type: SiteQuality
SIO_000300: 2.710044e6

GenotypeQuality
all individuals: 513
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3089
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34535
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3536
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.907e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.26e1

DP
type: SiteQuality
SIO_000300: 2.708913e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.317e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.261e0

GenotypeQuality
all individuals: 3085
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34531
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.497e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 2.707573e6

FS
type: SiteQuality
SIO_000300: 2.389e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.194e1

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34531
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.033484911120298e-4
allele num: 9676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.194e1

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 2.389e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.707573e6

VQSLOD
type: SiteQuality
SIO_000300: 8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.497e0