X-65390537-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390537
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390537
    reference: chr 0
allele count: 1
allele frequency: 1.355509468233636e-5
allele num: 73773
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.134A>G
  hgvsp: ENSP00000363859.3:p.Lys45Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.125A>G
  hgvsp: ENSP00000343939.2:p.Lys42Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.287A>G
  hgvsp: ENSP00000430620.1:p.Lys96Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.134A>G
  hgvsp: ENSP00000411687.2:p.Lys45Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.134A>G
  hgvsp: ENSP00000392319.1:p.Lys45Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.125A>G
  hgvsp: ENSP00000396907.1:p.Lys42Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.125A>G
  hgvsp: ENSP00000398078.1:p.Lys42Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.134A>G
  hgvsp: ENSP00000413211.1:p.Lys45Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1660A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17391
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys96Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

X-65390553-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390553
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390553
    reference: chr 0
allele count: 1
allele frequency: 1.408688792471967e-5
allele num: 70988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.141C>A
  hgvsp: ENST00000458621.1:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.150C>A
  hgvsp: ENST00000419594.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.150C>A
  hgvsp: ENST00000429547.1:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.150C>A
  hgvsp: ENST00000441993.2:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1644C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.303C>A
  hgvsp: ENST00000519389.1:c.303C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.141C>A
  hgvsp: ENST00000425114.1:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.141C>A
  hgvsp: ENST00000343002.2:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.150C>A
  hgvsp: ENST00000374727.3:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23131
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile101Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

X-65390553-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390553
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390553
    reference: chr 0
allele count: 2
allele frequency: 2.817377584943934e-5
allele num: 70988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.141C>G
  hgvsp: ENSP00000343939.2:p.Ile47Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.150C>G
  hgvsp: ENSP00000413211.1:p.Ile50Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1644C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.141C>G
  hgvsp: ENSP00000396907.1:p.Ile47Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.150C>G
  hgvsp: ENSP00000411687.2:p.Ile50Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.150C>G
  hgvsp: ENSP00000363859.3:p.Ile50Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.303C>G
  hgvsp: ENSP00000430620.1:p.Ile101Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.150C>G
  hgvsp: ENSP00000392319.1:p.Ile50Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.141C>G
  hgvsp: ENSP00000398078.1:p.Ile47Met
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23131
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile101Met
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

X-65390555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390555
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390555
    reference: chr 0
allele count: 24
allele frequency: 3.397364211599168e-4
allele num: 70643
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.143C>T
  hgvsp: ENSP00000343939.2:p.Thr48Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.152C>T
  hgvsp: ENSP00000363859.3:p.Thr51Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.152C>T
  hgvsp: ENSP00000392319.1:p.Thr51Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.143C>T
  hgvsp: ENSP00000396907.1:p.Thr48Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.152C>T
  hgvsp: ENSP00000413211.1:p.Thr51Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.305C>T
  hgvsp: ENSP00000430620.1:p.Thr102Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.143C>T
  hgvsp: ENSP00000398078.1:p.Thr48Met
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1642C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.152C>T
  hgvsp: ENSP00000411687.2:p.Thr51Met
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22904
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14451
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr102Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

X-65390556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390556
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390556
    reference: chr 0
allele count: 1
allele frequency: 1.421565143222688e-5
allele num: 70345
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.153G>A
  hgvsp: ENST00000374727.3:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.153G>A
  hgvsp: ENST00000441993.2:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.144G>A
  hgvsp: ENST00000425114.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.153G>A
  hgvsp: ENST00000429547.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1641G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.144G>A
  hgvsp: ENST00000343002.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.144G>A
  hgvsp: ENST00000458621.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.153G>A
  hgvsp: ENST00000419594.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.306G>A
  hgvsp: ENST00000519389.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22675
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr102Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-65390556-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390556
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390556
    reference: chr 0
allele count: 1
allele frequency: 1.421565143222688e-5
allele num: 70345
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.153G>T
  hgvsp: ENST00000419594.1:c.153G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.144G>T
  hgvsp: ENST00000343002.2:c.144G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.306G>T
  hgvsp: ENST00000519389.1:c.306G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.144G>T
  hgvsp: ENST00000458621.1:c.144G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.144G>T
  hgvsp: ENST00000425114.1:c.144G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.153G>T
  hgvsp: ENST00000429547.1:c.153G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1641G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.153G>T
  hgvsp: ENST00000441993.2:c.153G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.153G>T
  hgvsp: ENST00000374727.3:c.153G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr102Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

X-65390558-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390558
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390558
    reference: chr 0
allele count: 36
allele frequency: 5.289605924358636e-4
allele num: 68058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.146A>C
  hgvsp: ENSP00000398078.1:p.Asn49Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.146A>C
  hgvsp: ENSP00000396907.1:p.Asn49Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.155A>C
  hgvsp: ENSP00000411687.2:p.Asn52Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.155A>C
  hgvsp: ENSP00000363859.3:p.Asn52Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.155A>C
  hgvsp: ENSP00000392319.1:p.Asn52Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.308A>C
  hgvsp: ENSP00000430620.1:p.Asn103Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1639A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.155A>C
  hgvsp: ENSP00000413211.1:p.Asn52Thr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.146A>C
  hgvsp: ENSP00000343939.2:p.Asn49Thr
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21783
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24931
  bin: 6.25e1
  variant carriers: 2
hgvs: p.Asn103Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

X-65390568-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390568
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390568
    reference: chr 0
allele count: 15
allele frequency: 2.228693688339475e-4
allele num: 67304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.165G>C
  hgvsp: ENST00000374727.3:c.165G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.156G>C
  hgvsp: ENST00000425114.1:c.156G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.165G>C
  hgvsp: ENST00000429547.1:c.165G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.156G>C
  hgvsp: ENST00000458621.1:c.156G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1629G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.165G>C
  hgvsp: ENST00000419594.1:c.165G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.318G>C
  hgvsp: ENST00000519389.1:c.318G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.156G>C
  hgvsp: ENST00000343002.2:c.156G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.165G>C
  hgvsp: ENST00000441993.2:c.165G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16428
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19170
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu106Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

X-65390578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390578
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390578
    reference: chr 0
allele count: 2
allele frequency: 3.166109958998876e-5
allele num: 63169
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.328A>G
  hgvsp: ENSP00000430620.1:p.Ile110Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.166A>G
  hgvsp: ENSP00000343939.2:p.Ile56Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1619A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.166A>G
  hgvsp: ENSP00000396907.1:p.Ile56Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.175A>G
  hgvsp: ENSP00000363859.3:p.Ile59Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.175A>G
  hgvsp: ENSP00000392319.1:p.Ile59Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.166A>G
  hgvsp: ENSP00000398078.1:p.Ile56Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.175A>G
  hgvsp: ENSP00000411687.2:p.Ile59Val
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.175A>G
  hgvsp: ENSP00000413211.1:p.Ile59Val
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile110Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-65390582-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390582
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390582
    reference: chr 0
allele count: 14
allele frequency: 2.259376412110258e-4
allele num: 61964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+3A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.176+3A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+3A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+3A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+3A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+3A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1615A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+3A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+3A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18423
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13425
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
hgvs: c.329+3A>G
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

X-65390593-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390593
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390593
    reference: chr 0
allele count: 1378
allele frequency: 2.387594212942909e-2
allele num: 57715
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+14C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.176+14C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+14C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+14C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+14C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+14C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+14C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+14C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1604C>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 2.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.25e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.75e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 1.75e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 17651
  bin: 1.25e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 18848
  bin: 7.5e0
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 3.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 10598
  bin: 6.25e1
  variant carriers: 18
num of homozygotes: 96
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

X-65390596-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390596
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390596
    reference: chr 0
allele count: 1
allele frequency: 1.785108623859762e-5
allele num: 56019
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+17G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1601G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+17G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+17G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.176+17G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+17G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+17G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+17G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+17G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7449
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

X-65390599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390599
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390599
    reference: chr 0
allele count: 3
allele frequency: 5.524760133330878e-5
allele num: 54301
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1598G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+20G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+20G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+20G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+20G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+20G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+20G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+20G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.176+20G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

X-65390605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390605
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390605
    reference: chr 0
allele count: 1
allele frequency: 1.908506212187721e-5
allele num: 52397
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+26G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1592G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+26G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+26G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+26G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+26G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.176+26G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+26G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+26G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18600
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

X-65390608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390608
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390608
    reference: chr 0
allele count: 2
allele frequency: 4.110321016071355e-5
allele num: 48658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1589G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+29G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+29G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+29G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+29G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.176+29G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+29G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+29G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+29G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

X-65390617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390617
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390617
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 46156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+38T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.176+38T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+38T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+38T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1580T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+38T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+38T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+38T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+38T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20646
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

X-65390618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390618
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390618
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 45610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.176+39G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+39G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+39G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+39G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1579G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+39G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+39G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+39G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+39G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12414
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

X-65390622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390622
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390622
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 41690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.176+43G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+43G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+43G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+43G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+43G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1575G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+43G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+43G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+43G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12634
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6083
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

X-65390919-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390919
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390919
    reference: chr 0
allele count: 1
allele frequency: 1.77367860943597e-4
allele num: 5638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+340T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+340T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+340T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1278T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+340T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+340T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+340T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.177-50T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+340T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

X-65390936-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390936
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390936
    reference: chr 0
allele count: 2
allele frequency: 3.489792357354738e-4
allele num: 5731
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+357T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.177-33T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+357T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+357T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+357T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+357T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+357T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+357T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1261T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 940
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
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genotype depth: GenotypeDepth
  all individuals: 41
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genotype depth: GenotypeDepth
  all individuals: 365
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1894
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
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genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
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genotype quality: GenotypeQuality
  all individuals: 2027
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genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

X-65390949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390949
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390949
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 5818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+370C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+370C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+370C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+370C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.177-20C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+370C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1248C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+370C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+370C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 39
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

X-65390952-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390952
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390952
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 5877
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+373C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+373C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+373C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+373C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1245C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.177-17C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+373C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+373C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+373C>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

X-65390966-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065390966
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065390966
    reference: chr 0
allele count: 1440
allele frequency: 2.281007444954855e-1
allele num: 6313
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.177-3C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+387C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+387C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1231C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+387C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+387C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+387C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+387C>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+387C>A
  variant of: http://identifiers.org/hgnc/4866
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.5e0
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 267
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 3.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 7.5e0
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.75e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 6.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 2.25e1
  variant carriers: 78
hgvs: c.177-3C>A
num of homozygotes: 209
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

X-65391029-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065391029
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065391029
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 5489
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*45T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.167+450T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.329+450T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.176+450T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.176+450T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.167+450T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-1168T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.167+450T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.176+450T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

X-65392157-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392157
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392157
    reference: chr 0
allele count: 3
allele frequency: 4.079024297388065e-5
allele num: 73547
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*127-40G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.177-40G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-40G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.177-40G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.330-40G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.177-40G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.168-40G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.168-40G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.168-40G>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5926
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

X-65392163-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392163
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392163
    reference: chr 0
allele count: 1
allele frequency: 1.351698409050972e-5
allele num: 73981
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.168-34G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*127-34G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.177-34G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.168-34G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.177-34G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-34G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.177-34G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.168-34G>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.330-34G>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16000
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5955
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

X-65392174-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392174
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392174
    reference: chr 0
allele count: 2
allele frequency: 2.658513890735079e-5
allele num: 75230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.177-23T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.168-23T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*127-23T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-23T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.330-23T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.177-23T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.177-23T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.168-23T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.168-23T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5999
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-65392180-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392180
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392180
    reference: chr 0
allele count: 1
allele frequency: 1.314837946223128e-5
allele num: 76055
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-17T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.168-17T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.168-17T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*127-17T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.330-17T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.177-17T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.177-17T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.168-17T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.177-17T>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

X-65392181-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392181
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392181
    reference: chr 0
allele count: 20862
allele frequency: 2.693400123941335e-1
allele num: 77456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.177-16T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.168-16T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.168-16T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.330-16T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.168-16T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*127-16T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-16T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.177-16T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.177-16T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.75e1
  variant carriers: 978
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 3.25e1
  variant carriers: 1856
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 1.75e1
  variant carriers: 1675
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.5e0
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 693
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 1372
genotype depth: GenotypeDepth
  all individuals: 18201
  bin: 2.25e1
  variant carriers: 2164
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 4.25e1
  variant carriers: 1507
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 1207
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 1.25e1
  variant carriers: 1101
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 1654
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.75e1
  variant carriers: 2106
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 7.5e0
  variant carriers: 658
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 523
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 431
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 299
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 2.75e1
  variant carriers: 208
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 6.75e1
  variant carriers: 704
genotype quality: GenotypeQuality
  all individuals: 6686
  bin: 2.25e1
  variant carriers: 355
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 7.75e1
  variant carriers: 603
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 322
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 1.75e1
  variant carriers: 280
num of homozygotes: 3066
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

X-65392186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392186
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392186
    reference: chr 0
allele count: 18
allele frequency: 2.282091917591125e-4
allele num: 78875
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.177-11T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*127-11T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.330-11T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.177-11T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.168-11T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.168-11T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.168-11T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.177-11T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-11T>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20050
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

X-65392194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392194
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392194
    reference: chr 0
allele count: 3
allele frequency: 3.736362277686444e-5
allele num: 80292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.177-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*127-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.330-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.177-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.168-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.168-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.168-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-634-3C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.177-3C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 2.75e1
  variant carriers: 0
hgvs: c.330-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

X-65392200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392200
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392200
    reference: chr 0
allele count: 1
allele frequency: 1.231542260372665e-5
allele num: 81199
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.180G>A
  hgvsp: ENST00000374727.3:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.171G>A
  hgvsp: ENST00000425114.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.171G>A
  hgvsp: ENST00000343002.2:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.180G>A
  hgvsp: ENST00000419594.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.333G>A
  hgvsp: ENST00000519389.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.180G>A
  hgvsp: ENST00000441993.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*130G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.171G>A
  hgvsp: ENST00000458621.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-631G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val111Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

X-65392205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392205
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392205
    reference: chr 0
allele count: 117
allele frequency: 1.464990483822498e-3
allele num: 79864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.176C>T
  hgvsp: ENSP00000396907.1:p.Ser59Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-626C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.185C>T
  hgvsp: ENSP00000413211.1:p.Ser62Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.176C>T
  hgvsp: ENSP00000343939.2:p.Ser59Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.338C>T
  hgvsp: ENSP00000430620.1:p.Ser113Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.185C>T
  hgvsp: ENSP00000363859.3:p.Ser62Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*135C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.185C>T
  hgvsp: ENSP00000411687.2:p.Ser62Phe
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.176C>T
  hgvsp: ENSP00000398078.1:p.Ser59Phe
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 22970
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 2.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 4928
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.25e1
  variant carriers: 9
hgvs: p.Ser113Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

X-65392229-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392229
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392229
    reference: chr 0
allele count: 1
allele frequency: 1.187197264697502e-5
allele num: 84232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.200A>T
  hgvsp: ENSP00000396907.1:p.Asn67Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-602A>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*159A>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.209A>T
  hgvsp: ENSP00000411687.2:p.Asn70Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.200A>T
  hgvsp: ENSP00000398078.1:p.Asn67Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.200A>T
  hgvsp: ENSP00000343939.2:p.Asn67Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.209A>T
  hgvsp: ENSP00000413211.1:p.Asn70Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.362A>T
  hgvsp: ENSP00000430620.1:p.Asn121Ile
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.209A>T
  hgvsp: ENSP00000363859.3:p.Asn70Ile
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn121Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

X-65392231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392231
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392231
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 84420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.364C>T
  hgvsp: ENSP00000430620.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.202C>T
  hgvsp: ENSP00000343939.2:p.Arg68Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.211C>T
  hgvsp: ENSP00000363859.3:p.Arg71Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.211C>T
  hgvsp: ENSP00000413211.1:p.Arg71Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.202C>T
  hgvsp: ENSP00000398078.1:p.Arg68Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.211C>T
  hgvsp: ENSP00000411687.2:p.Arg71Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.202C>T
  hgvsp: ENSP00000396907.1:p.Arg68Trp
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*161C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-600C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24851
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg122Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

X-65392236-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392236
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392236
    reference: chr 0
allele count: 1
allele frequency: 1.175295292942352e-5
allele num: 85085
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.216A>C
  hgvsp: ENST00000374727.3:c.216A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.216A>C
  hgvsp: ENST00000419594.1:c.216A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.207A>C
  hgvsp: ENST00000458621.1:c.207A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.207A>C
  hgvsp: ENST00000343002.2:c.207A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.369A>C
  hgvsp: ENST00000519389.1:c.369A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*166A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.216A>C
  hgvsp: ENST00000441993.2:c.216A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-595A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.207A>C
  hgvsp: ENST00000425114.1:c.207A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile123Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

X-65392239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392239
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392239
    reference: chr 0
allele count: 1
allele frequency: 1.171714804616556e-5
allele num: 85345
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.219G>A
  hgvsp: ENST00000419594.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.210G>A
  hgvsp: ENST00000425114.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*169G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.219G>A
  hgvsp: ENST00000441993.2:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.372G>A
  hgvsp: ENST00000519389.1:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-592G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.219G>A
  hgvsp: ENST00000374727.3:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.210G>A
  hgvsp: ENST00000343002.2:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.210G>A
  hgvsp: ENST00000458621.1:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly124Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

X-65392254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392254
    reference: chr 0
allele count: 1
allele frequency: 1.15854718183398e-5
allele num: 86315
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.225G>A
  hgvsp: ENST00000458621.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.234G>A
  hgvsp: ENST00000419594.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.234G>A
  hgvsp: ENST00000374727.3:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.387G>A
  hgvsp: ENST00000519389.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.225G>A
  hgvsp: ENST00000343002.2:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.234G>A
  hgvsp: ENST00000441993.2:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-577G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000392319
  ensembl transcript: ENST00000429547
  gene symbol: HEPH
  hgvsc: ENST00000429547.1:c.*184G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.225G>A
  hgvsp: ENST00000425114.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27921
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys129Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

X-65392274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392274
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392274
    reference: chr 0
allele count: 1
allele frequency: 1.152511899685364e-5
allele num: 86767
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.245A>G
  hgvsp: ENSP00000343939.2:p.Lys82Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.245A>G
  hgvsp: ENSP00000398078.1:p.Lys82Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.254A>G
  hgvsp: ENSP00000411687.2:p.Lys85Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.254A>G
  hgvsp: ENSP00000413211.1:p.Lys85Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.407A>G
  hgvsp: ENSP00000430620.1:p.Lys136Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.254A>G
  hgvsp: ENSP00000363859.3:p.Lys85Arg
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-557A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.245A>G
  hgvsp: ENSP00000396907.1:p.Lys82Arg
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys136Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

X-65392275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392275
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392275
    reference: chr 0
allele count: 5
allele frequency: 5.762559498426821e-5
allele num: 86767
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.408G>A
  hgvsp: ENST00000519389.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.246G>A
  hgvsp: ENST00000343002.2:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-556G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.246G>A
  hgvsp: ENST00000425114.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.255G>A
  hgvsp: ENST00000441993.2:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.246G>A
  hgvsp: ENST00000458621.1:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.255G>A
  hgvsp: ENST00000419594.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.255G>A
  hgvsp: ENST00000374727.3:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10880
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys136Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

X-65392283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392283
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392283
    reference: chr 0
allele count: 1
allele frequency: 1.150827444932907e-5
allele num: 86894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.263C>T
  hgvsp: ENSP00000363859.3:p.Ser88Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.263C>T
  hgvsp: ENSP00000413211.1:p.Ser88Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.263C>T
  hgvsp: ENSP00000411687.2:p.Ser88Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.254C>T
  hgvsp: ENSP00000343939.2:p.Ser85Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.416C>T
  hgvsp: ENSP00000430620.1:p.Ser139Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.254C>T
  hgvsp: ENSP00000396907.1:p.Ser85Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.254C>T
  hgvsp: ENSP00000398078.1:p.Ser85Leu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-548C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser139Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

X-65392309-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392309
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392309
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.280G>C
  hgvsp: ENSP00000343939.2:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.289G>C
  hgvsp: ENSP00000411687.2:p.Ala97Pro
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.280G>C
  hgvsp: ENSP00000398078.1:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.442G>C
  hgvsp: ENSP00000430620.1:p.Ala148Pro
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-522G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.280G>C
  hgvsp: ENSP00000396907.1:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.289G>C
  hgvsp: ENSP00000413211.1:p.Ala97Pro
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.289G>C
  hgvsp: ENSP00000363859.3:p.Ala97Pro
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala148Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

X-65392349-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392349
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392349
    reference: chr 0
allele count: 1
allele frequency: 1.148527587632655e-5
allele num: 87068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.320T>A
  hgvsp: ENSP00000396907.1:p.Val107Glu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.329T>A
  hgvsp: ENSP00000363859.3:p.Val110Glu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-482T>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.320T>A
  hgvsp: ENSP00000398078.1:p.Val107Glu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.329T>A
  hgvsp: ENSP00000411687.2:p.Val110Glu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.320T>A
  hgvsp: ENSP00000343939.2:p.Val107Glu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.329T>A
  hgvsp: ENSP00000413211.1:p.Val110Glu
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.482T>A
  hgvsp: ENSP00000430620.1:p.Val161Glu
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val161Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

X-65392358-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392358
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392358
    reference: chr 0
allele count: 3
allele frequency: 3.452839960867814e-5
allele num: 86885
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.491T>C
  hgvsp: ENSP00000430620.1:p.Val164Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-473T>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.338T>C
  hgvsp: ENSP00000363859.3:p.Val113Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.329T>C
  hgvsp: ENSP00000396907.1:p.Val110Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.329T>C
  hgvsp: ENSP00000398078.1:p.Val110Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.338T>C
  hgvsp: ENSP00000411687.2:p.Val113Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.329T>C
  hgvsp: ENSP00000343939.2:p.Val110Ala
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.338T>C
  hgvsp: ENSP00000413211.1:p.Val113Ala
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val164Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

X-65392388-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392388
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392388
    reference: chr 0
allele count: 1
allele frequency: 1.1648223645894e-5
allele num: 85850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.368C>G
  hgvsp: ENSP00000413211.1:p.Thr123Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.359C>G
  hgvsp: ENSP00000343939.2:p.Thr120Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.521C>G
  hgvsp: ENSP00000430620.1:p.Thr174Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.359C>G
  hgvsp: ENSP00000396907.1:p.Thr120Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.359C>G
  hgvsp: ENSP00000398078.1:p.Thr120Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-443C>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.368C>G
  hgvsp: ENSP00000411687.2:p.Thr123Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.368C>G
  hgvsp: ENSP00000363859.3:p.Thr123Ser
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr174Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

X-65392391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392391
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392391
    reference: chr 0
allele count: 7
allele frequency: 8.171174431227894e-5
allele num: 85667
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.362G>A
  hgvsp: ENSP00000396907.1:p.Arg121His
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.524G>A
  hgvsp: ENSP00000430620.1:p.Arg175His
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.371G>A
  hgvsp: ENSP00000413211.1:p.Arg124His
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.362G>A
  hgvsp: ENSP00000343939.2:p.Arg121His
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.371G>A
  hgvsp: ENSP00000363859.3:p.Arg124His
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-440G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.362G>A
  hgvsp: ENSP00000398078.1:p.Arg121His
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.371G>A
  hgvsp: ENSP00000411687.2:p.Arg124His
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14118
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg175His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-65392393-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392393
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392393
    reference: chr 0
allele count: 1
allele frequency: 1.168797774609037e-5
allele num: 85558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.373C>T
  hgvsp: ENSP00000413211.1:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.364C>T
  hgvsp: ENSP00000398078.1:p.Pro122Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-438C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.373C>T
  hgvsp: ENSP00000363859.3:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.364C>T
  hgvsp: ENSP00000343939.2:p.Pro122Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.526C>T
  hgvsp: ENSP00000430620.1:p.Pro176Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.364C>T
  hgvsp: ENSP00000396907.1:p.Pro122Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.373C>T
  hgvsp: ENSP00000411687.2:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20834
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro176Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

X-65392405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392405
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392405
    reference: chr 0
allele count: 1
allele frequency: 1.178342072703706e-5
allele num: 84865
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.376C>T
  hgvsp: ENSP00000398078.1:p.His126Tyr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.385C>T
  hgvsp: ENSP00000363859.3:p.His129Tyr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.376C>T
  hgvsp: ENSP00000343939.2:p.His126Tyr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.376C>T
  hgvsp: ENSP00000396907.1:p.His126Tyr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.538C>T
  hgvsp: ENSP00000430620.1:p.His180Tyr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.385C>T
  hgvsp: ENSP00000413211.1:p.His129Tyr
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-426C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.385C>T
  hgvsp: ENSP00000411687.2:p.His129Tyr
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11075
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His180Tyr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-65392425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392425
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392425
    reference: chr 0
allele count: 1
allele frequency: 1.199098278094873e-5
allele num: 83396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.396C>T
  hgvsp: ENST00000343002.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-406C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.405C>T
  hgvsp: ENST00000441993.2:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.405C>T
  hgvsp: ENST00000374727.3:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.405C>T
  hgvsp: ENST00000419594.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.558C>T
  hgvsp: ENST00000519389.1:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.396C>T
  hgvsp: ENST00000458621.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.396C>T
  hgvsp: ENST00000425114.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13809
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genotype depth: GenotypeDepth
  all individuals: 3795
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genotype depth: GenotypeDepth
  all individuals: 2459
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genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 113
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19925
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genotype depth: GenotypeDepth
  all individuals: 212
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genotype depth: GenotypeDepth
  all individuals: 529
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genotype depth: GenotypeDepth
  all individuals: 107
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genotype depth: GenotypeDepth
  all individuals: 1489
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 459
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genotype depth: GenotypeDepth
  all individuals: 1108
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 196
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genotype depth: GenotypeDepth
  all individuals: 816
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genotype quality: GenotypeQuality
  all individuals: 198
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genotype quality: GenotypeQuality
  all individuals: 1549
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genotype quality: GenotypeQuality
  all individuals: 153
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genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 114
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  variant carriers: 0
hgvs: p.Tyr186Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

X-65392452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392452
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392452
    reference: chr 0
allele count: 1
allele frequency: 1.221448638084768e-5
allele num: 81870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.412+11C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.421+11C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.421+11C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.421+11C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.574+11C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-390+11C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.412+11C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.412+11C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 212
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 139
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1778
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genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

X-65392455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392455
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392455
    reference: chr 0
allele count: 1
allele frequency: 1.225084837124971e-5
allele num: 81627
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.412+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-390+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.574+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.421+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.421+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.412+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.412+14C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.421+14C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 351
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22617
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

X-65392456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392456
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392456
    reference: chr 0
allele count: 3
allele frequency: 3.676515643574063e-5
allele num: 81599
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.421+15C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-390+15C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.421+15C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.412+15C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.574+15C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.412+15C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.412+15C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.421+15C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

X-65392457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392457
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392457
    reference: chr 0
allele count: 1
allele frequency: 1.225655419235436e-5
allele num: 81589
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.574+16G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.421+16G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-390+16G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.421+16G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.421+16G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.412+16G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.412+16G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.412+16G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

X-65392474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392474
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392474
    reference: chr 0
allele count: 1
allele frequency: 1.237424671773106e-5
allele num: 80813
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.421+33C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.412+33C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.421+33C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.412+33C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.574+33C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.412+33C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-390+33C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.421+33C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13236
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS

X-65392477-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392477
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392477
    reference: chr 0
allele count: 1
allele frequency: 1.239833366395556e-5
allele num: 80656
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.574+36A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.421+36A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.421+36A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-390+36A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.412+36A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.412+36A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.412+36A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.421+36A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11086
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

X-65392483-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065392483
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065392483
    reference: chr 0
allele count: 1
allele frequency: 1.241742412953857e-5
allele num: 80532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.421+42A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-390+42A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.412+42A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.412+42A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.421+42A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.574+42A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.412+42A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.421+42A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-65393382-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393382
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393382
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 50660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.413-49A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.422-49A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.413-49A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.413-49A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.575-49A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.422-49A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-389-49A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.422-49A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22400
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1461
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-65393383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393383
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393383
    reference: chr 0
allele count: 2
allele frequency: 3.971248163297724e-5
allele num: 50362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.413-48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.575-48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.422-48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.422-48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.413-48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.422-48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.413-48C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-389-48C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 156
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6010
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genotype quality: GenotypeQuality
  all individuals: 5938
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

X-65393385-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393385
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393385
    reference: chr 0
allele count: 1
allele frequency: 1.961438126434302e-5
allele num: 50983
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.422-46G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.575-46G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.422-46G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.413-46G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.413-46G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-389-46G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.413-46G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.422-46G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

X-65393389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393389
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393389
    reference: chr 0
allele count: 1
allele frequency: 1.942200124300808e-5
allele num: 51488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-389-42C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.413-42C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.422-42C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.413-42C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.422-42C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.422-42C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.575-42C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.413-42C>T
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7300
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23162
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5735
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

X-65393403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393403
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393403
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 53997
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-389-28G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.575-28G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.422-28G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.413-28G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.422-28G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.422-28G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.413-28G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.413-28G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24520
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 406
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genotype depth: GenotypeDepth
  all individuals: 318
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genotype depth: GenotypeDepth
  all individuals: 12953
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 503
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genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

X-65393403-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393403
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393402
    reference: chr 0
allele count: 1
allele frequency: 1.851954738226198e-5
allele num: 53997
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.413-26delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.422-26delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.422-26delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.413-26delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.413-26delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-389-26delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.422-26delC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.575-26delC
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: GC
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-65393407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393407
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393407
    reference: chr 0
allele count: 4
allele frequency: 7.163323782234957e-5
allele num: 55840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.422-24G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.413-24G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.413-24G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.575-24G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.422-24G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.422-24G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-389-24G>A
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.413-24G>A
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 385
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

X-65393407-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393407
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393407
    reference: chr 0
allele count: 2
allele frequency: 3.581661891117478e-5
allele num: 55840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.422-24G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.413-24G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.422-24G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.413-24G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.422-24G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.413-24G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.575-24G>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-389-24G>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15383
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-65393415-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393415
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393415
    reference: chr 0
allele count: 1
allele frequency: 1.662510390689942e-5
allele num: 60150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.413-16A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.575-16A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.422-16A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.413-16A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.422-16A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-389-16A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.422-16A>C
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.413-16A>C
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

X-65393436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393436
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393436
    reference: chr 0
allele count: 1
allele frequency: 1.416350348422186e-5
allele num: 70604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.427C>T
  hgvsp: ENST00000374727.3:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.418C>T
  hgvsp: ENST00000425114.1:c.418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-384C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.418C>T
  hgvsp: ENST00000343002.2:c.418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.580C>T
  hgvsp: ENST00000519389.1:c.580C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.418C>T
  hgvsp: ENST00000458621.1:c.418C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.427C>T
  hgvsp: ENST00000441993.2:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.427C>T
  hgvsp: ENST00000419594.1:c.427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu194Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

X-65393446-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393446
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393446
    reference: chr 0
allele count: 1
allele frequency: 1.337166544093067e-5
allele num: 74785
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.428A>G
  hgvsp: ENSP00000396907.1:p.Asp143Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.437A>G
  hgvsp: ENSP00000413211.1:p.Asp146Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.428A>G
  hgvsp: ENSP00000343939.2:p.Asp143Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.590A>G
  hgvsp: ENSP00000430620.1:p.Asp197Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.437A>G
  hgvsp: ENSP00000411687.2:p.Asp146Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.437A>G
  hgvsp: ENSP00000363859.3:p.Asp146Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.428A>G
  hgvsp: ENSP00000398078.1:p.Asp143Gly
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-374A>G
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp197Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

X-65393468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393468
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393468
    reference: chr 0
allele count: 2
allele frequency: 2.527071250773916e-5
allele num: 79143
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.459A>G
  hgvsp: ENST00000419594.1:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.459A>G
  hgvsp: ENST00000441993.2:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.450A>G
  hgvsp: ENST00000425114.1:c.450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.459A>G
  hgvsp: ENST00000374727.3:c.459A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.450A>G
  hgvsp: ENST00000458621.1:c.450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-352A>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.612A>G
  hgvsp: ENST00000519389.1:c.612A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.450A>G
  hgvsp: ENST00000343002.2:c.450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys204Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

X-65393480-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393480
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393480
    reference: chr 0
allele count: 1
allele frequency: 1.251721116535236e-5
allele num: 79890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.462T>G
  hgvsp: ENST00000458621.1:c.462T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.624T>G
  hgvsp: ENST00000519389.1:c.624T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.471T>G
  hgvsp: ENST00000441993.2:c.471T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-340T>G
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.471T>G
  hgvsp: ENST00000374727.3:c.471T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.462T>G
  hgvsp: ENST00000425114.1:c.462T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.471T>G
  hgvsp: ENST00000419594.1:c.471T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.462T>G
  hgvsp: ENST00000343002.2:c.462T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser208Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

X-65393483-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393483
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393484
    reference: chr 0
allele count: 1
allele frequency: 1.253054319904768e-5
allele num: 79805
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.479dupC
  hgvsp: ENSP00000411687.2:p.Ser163GlnfsTer18
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.479dupC
  hgvsp: ENSP00000413211.1:p.Ser163GlnfsTer18
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.470dupC
  hgvsp: ENSP00000343939.2:p.Ser160GlnfsTer18
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.470dupC
  hgvsp: ENSP00000398078.1:p.Ser160GlnfsTer18
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.470dupC
  hgvsp: ENSP00000396907.1:p.Ser160GlnfsTer18
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.632dupC
  hgvsp: ENSP00000430620.1:p.Ser214GlnfsTer18
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-332dupC
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.479dupC
  hgvsp: ENSP00000363859.3:p.Ser163GlnfsTer18
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36103
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser214GlnfsTer18
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

X-65393484-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24065393484
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24065393484
    reference: chr 0
allele count: 7
allele frequency: 8.721545956317514e-5
allele num: 80261
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000337418
  ensembl transcript: ENST00000336279
  gene symbol: HEPH
  hgvsc: ENST00000336279.5:c.-336C>T
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000411687
  ensembl transcript: ENST00000441993
  gene symbol: HEPH
  hgvsc: ENST00000441993.2:c.475C>T
  hgvsp: ENSP00000411687.2:p.Pro159Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000430620
  ensembl transcript: ENST00000519389
  gene symbol: HEPH
  hgvsc: ENST00000519389.1:c.628C>T
  hgvsp: ENSP00000430620.1:p.Pro210Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000343939
  ensembl transcript: ENST00000343002
  gene symbol: HEPH
  hgvsc: ENST00000343002.2:c.466C>T
  hgvsp: ENSP00000343939.2:p.Pro156Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000413211
  ensembl transcript: ENST00000419594
  gene symbol: HEPH
  hgvsc: ENST00000419594.1:c.475C>T
  hgvsp: ENSP00000413211.1:p.Pro159Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000363859
  ensembl transcript: ENST00000374727
  gene symbol: HEPH
  hgvsc: ENST00000374727.3:c.475C>T
  hgvsp: ENSP00000363859.3:p.Pro159Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000396907
  ensembl transcript: ENST00000458621
  gene symbol: HEPH
  hgvsc: ENST00000458621.1:c.466C>T
  hgvsp: ENSP00000396907.1:p.Pro156Ser
  variant of: http://identifiers.org/hgnc/4866
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000089472
  ensembl protein: ENSP00000398078
  ensembl transcript: ENST00000425114
  gene symbol: HEPH
  hgvsc: ENST00000425114.1:c.466C>T
  hgvsp: ENSP00000398078.1:p.Pro156Ser
  variant of: http://identifiers.org/hgnc/4866
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35312
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro210Ser
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8003
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5847
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.493268175925002e-5
allele num: 40108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8013
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.143e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.09e-2

QD
type: SiteQuality
SIO_000300: 1.022e1

FS
type: SiteQuality
SIO_000300: 3.312e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.146538e6

GenotypeQuality
all individuals: 331
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.289490651192779e-4
allele num: 7755
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7565
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5589
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 503
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

FS
type: SiteQuality
SIO_000300: 6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 9.59e0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

DP
type: SiteQuality
SIO_000300: 1.100934e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 20009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26292
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.64375413086583e-4
allele num: 7565
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7755
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5589
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 503
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3312
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 1.100934e6

FS
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

GenotypeQuality
all individuals: 1504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 895
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20366
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1754
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2018
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 470
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26430
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.893575600259571e-4
allele num: 7705
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.215803885773895e-5
allele num: 38345
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.996007984031936e-3
allele num: 501
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.295672454003628e-4
allele num: 7718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3279
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.298013245033113e-4
allele num: 7550
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 2.344454463480613e-3
allele num: 5545
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.097192e6

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 1.558e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7687
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.301913813305559e-4
allele num: 7681
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38161
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 1.072e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 8.58e0

VQSLOD
type: SiteQuality
SIO_000300: -1.242e0

DP
type: SiteQuality
SIO_000300: 1.093672e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

GenotypeQuality
all individuals: 20593
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 563
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.301913813305559e-4
allele num: 7681
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38161
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7687
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.242e0

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 8.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 1.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e0

DP
type: SiteQuality
SIO_000300: 1.093672e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 454
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1689
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 839
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1485
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1771
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 20729
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1354
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 603
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 828
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 897
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 430
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.319783555496899e-4
allele num: 7577
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 4.336983627886805e-4
allele num: 36892
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.65860400829302e-3
allele num: 7235
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7609
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.757469244288225e-3
allele num: 2845
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.842978252856616e-4
allele num: 5426
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.109704641350211e-3
allele num: 474
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.725e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: -1.114e2

DP
type: SiteQuality
SIO_000300: 1.104816e6

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 1.54376e2

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

GenotypeQuality
all individuals: 499
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24215
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 262
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1889
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 4.115565067083711e-4
allele num: 36447
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7379
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5265
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7325
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

DP
type: SiteQuality
SIO_000300: 1.04896e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e-1

GenotypeQuality
all individuals: 1573
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3234
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27366
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 449
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.474056603773585e-4
allele num: 6784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7095
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2899
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4911
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34263
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.477541371158392e-4
allele num: 6768
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

FS
type: SiteQuality
SIO_000300: 8.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

QD
type: SiteQuality
SIO_000300: 1.601e1

DP
type: SiteQuality
SIO_000300: 9.5898e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

GenotypeQuality
all individuals: 532
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 1512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 762
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 3748
bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7007
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4809
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.257336343115124e-3
allele num: 443
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6657
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 3.867781381095475e-4
allele num: 33611
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2833
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

DP
type: SiteQuality
SIO_000300: 9.34485e5

FS
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

GenotypeQuality
all individuals: 3098
bin: 2.75e1
variant carriers: 29

GenotypeQuality
all individuals: 1028
bin: 1.25e1
variant carriers: 20

GenotypeQuality
all individuals: 306
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 183
bin: 9.25e1
variant carriers: 13

GenotypeQuality
all individuals: 29050
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variant carriers: 44

GenotypeQuality
all individuals: 291
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 275
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 383
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 6376
bin: 7.5e0
variant carriers: 17

GenotypeQuality
all individuals: 1218
bin: 6.75e1
variant carriers: 20

GenotypeQuality
all individuals: 2515
bin: 9.75e1
variant carriers: 1039

GenotypeQuality
all individuals: 876
bin: 3.75e1
variant carriers: 48

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 11

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 27

South Asian
type: Population
allele count: 3
allele frequency: 4.944783253667381e-4
allele num: 6067
num of homozygotes: 0

Latino
type: Population
allele count: 60
allele frequency: 9.713453132588635e-3
allele num: 6177
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4440
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.481389578163772e-3
allele num: 403
num of homozygotes: 0

African
type: Population
allele count: 1298
allele frequency: 1.935580077542499e-1
allele num: 6706
num of homozygotes: 96

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 5.106926268751995e-4
allele num: 31330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.386e-1

FS
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 8.67653e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.73e0

QD
type: SiteQuality
SIO_000300: 1.671e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

GenotypeQuality
all individuals: 3310
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.25e1
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GenotypeQuality
all individuals: 296
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variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.25e1
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GenotypeQuality
all individuals: 1109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
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GenotypeQuality
all individuals: 1766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29275
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variant carriers: 0

GenotypeQuality
all individuals: 9222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 391
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2511
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.268721602981074e-5
allele num: 30593
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5979
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5909
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.000999999999999e-1

QD
type: SiteQuality
SIO_000300: 7.86e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.417e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

DP
type: SiteQuality
SIO_000300: 8.15479e5

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.98e-1

GenotypeQuality
all individuals: 2796
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28383
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1016
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8679
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variant carriers: 1

GenotypeQuality
all individuals: 365
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GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
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GenotypeQuality
all individuals: 280
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variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 381
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4185
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2417
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.367456896551724e-5
allele num: 29696
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.46860908775581e-4
allele num: 5766
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.455e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

DP
type: SiteQuality
SIO_000300: 7.85321e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 2.873e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 27287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 145
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 444
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6052
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
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GenotypeQuality
all individuals: 1198
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5987
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4013
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28697
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.797914419273643e-4
allele num: 5562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 7.49279e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.849e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.114e1

GenotypeQuality
all individuals: 12505
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3707
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3072
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1583
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3559
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 3.497726477789437e-4
allele num: 5718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3684
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5119
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 355
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.344e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.504e0

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.2488e1

VQSLOD
type: SiteQuality
SIO_000300: -1.411e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 7.02283e5

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 2.5e0
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GenotypeQuality
all individuals: 3722
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GenotypeQuality
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GenotypeQuality
all individuals: 3667
bin: 3.25e1
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GenotypeQuality
all individuals: 250
bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 13792
bin: 7.5e0
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GenotypeQuality
all individuals: 3164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1725
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1985
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4841
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3477
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 329
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -2.082e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.72378e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 7.52e0

GenotypeQuality
all individuals: 13950
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4644
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20827
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25095
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3403
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4603
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4771
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.053e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.68551e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

GenotypeQuality
all individuals: 14485
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5306
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 9.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4173
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3045
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4275
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22999
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5126
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.88e-2

QD
type: SiteQuality
SIO_000300: 1.406e1

VQSLOD
type: SiteQuality
SIO_000300: -6.713e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.45013e5

MQ
type: SiteQuality
SIO_000300: 5.516e1

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2246
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.2271714922049e-3
allele num: 449
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 117
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2607
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.252e0

VQSLOD
type: SiteQuality
SIO_000300: -9.111e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.012e0

FS
type: SiteQuality
SIO_000300: 5.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.07506e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.795074758135445e-4
allele num: 2274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 451
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

QD
type: SiteQuality
SIO_000300: 1.266e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.11869e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

GenotypeQuality
all individuals: 511
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 154
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.518e-1

DP
type: SiteQuality
SIO_000300: 1.17444e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2761
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2319
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 67
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.39e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.18888e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.43e-1

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 897
bin: 9.75e1
variant carriers: 726

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 87

GenotypeQuality
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bin: 7.5e0
variant carriers: 84

GenotypeQuality
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variant carriers: 9

GenotypeQuality
all individuals: 288
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variant carriers: 52

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 30

GenotypeQuality
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variant carriers: 19

GenotypeQuality
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bin: 3.75e1
variant carriers: 94

GenotypeQuality
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bin: 4.25e1
variant carriers: 53

GenotypeQuality
all individuals: 56
bin: 8.25e1
variant carriers: 13

GenotypeQuality
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bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 279
bin: 3.25e1
variant carriers: 101

GenotypeQuality
all individuals: 57
bin: 7.75e1
variant carriers: 16

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

Other
type: Population
allele count: 22
allele frequency: 2.933333333333333e-1
allele num: 75
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 555
allele frequency: 2.258852258852259e-1
allele num: 2457
num of homozygotes: 54

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 373
allele frequency: 7.919320594479831e-1
allele num: 471
num of homozygotes: 135

Latino
type: Population
allele count: 32
allele frequency: 2.53968253968254e-1
allele num: 126
num of homozygotes: 2

South Asian
type: Population
allele count: 458
allele frequency: 1.513549239920687e-1
allele num: 3026
num of homozygotes: 18

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 1.987e1

VQSLOD
type: SiteQuality
SIO_000300: 4.269e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.742e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.28741e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeQuality
all individuals: 481
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 384
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GenotypeQuality
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GenotypeQuality
all individuals: 303
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 137
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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
all individuals: 235
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 149
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2487
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 445
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.668e-1

DP
type: SiteQuality
SIO_000300: 9.2554e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

QD
type: SiteQuality
SIO_000300: 2.346e1

GenotypeQuality
all individuals: 898
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7859
bin: 2.25e1
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GenotypeQuality
all individuals: 294
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variant carriers: 0

GenotypeQuality
all individuals: 3723
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GenotypeQuality
all individuals: 684
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variant carriers: 0

GenotypeQuality
all individuals: 3085
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 9.25e1
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GenotypeQuality
all individuals: 2077
bin: 8.25e1
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GenotypeQuality
all individuals: 1095
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4259
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41733
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 513
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5895
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.989892272908631e-4
allele num: 7519
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4889
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8739
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.006e0

QD
type: SiteQuality
SIO_000300: 1.603e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.250678e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.461e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
all individuals: 1136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4655
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 836
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.687478906513669e-4
allele num: 5926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4941
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.286421e6

QD
type: SiteQuality
SIO_000300: 2.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

FS
type: SiteQuality
SIO_000300: 6.419e0

VQSLOD
type: SiteQuality
SIO_000300: -2.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

GenotypeQuality
all individuals: 606
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1963
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19344
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 523
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42683
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8831
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6016
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.602133749674733e-4
allele num: 7686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4305
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 1.785e0

QD
type: SiteQuality
SIO_000300: 2.588e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

DP
type: SiteQuality
SIO_000300: 1.352406e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

GenotypeQuality
all individuals: 2049
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.647446457990115e-4
allele num: 6070
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 527
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.386805e6

QD
type: SiteQuality
SIO_000300: 1.355e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.607e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

FS
type: SiteQuality
SIO_000300: 3.116e0

VQSLOD
type: SiteQuality
SIO_000300: -9.818e-1

GenotypeQuality
all individuals: 705
bin: 4.25e1
variant carriers: 293

GenotypeQuality
all individuals: 1936
bin: 8.25e1
variant carriers: 517

GenotypeQuality
all individuals: 949
bin: 4.75e1
variant carriers: 548

GenotypeQuality
all individuals: 339
bin: 2.5e0
variant carriers: 79

GenotypeQuality
all individuals: 1448
bin: 7.5e0
variant carriers: 125

GenotypeQuality
all individuals: 2126
bin: 3.25e1
variant carriers: 377

GenotypeQuality
all individuals: 1536
bin: 3.75e1
variant carriers: 473

GenotypeQuality
all individuals: 426
bin: 1.25e1
variant carriers: 139

GenotypeQuality
all individuals: 624
bin: 5.75e1
variant carriers: 375

GenotypeQuality
all individuals: 1032
bin: 5.25e1
variant carriers: 599

GenotypeQuality
all individuals: 14715
bin: 9.75e1
variant carriers: 11534

GenotypeQuality
all individuals: 1028
bin: 8.75e1
variant carriers: 299

GenotypeQuality
all individuals: 1330
bin: 9.25e1
variant carriers: 447

GenotypeQuality
all individuals: 15724
bin: 6.25e1
variant carriers: 630

East Asian
type: Population
allele count: 5
allele frequency: 8.241305422778968e-4
allele num: 6067
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1204
allele frequency: 2.8e-1
allele num: 4300
num of homozygotes: 81

Latino
type: Population
allele count: 2044
allele frequency: 2.296629213483146e-1
allele num: 8900
num of homozygotes: 197

Other
type: Population
allele count: 119
allele frequency: 2.167577413479053e-1
allele num: 549
num of homozygotes: 6

African
type: Population
allele count: 6482
allele frequency: 7.916463116756228e-1
allele num: 8188
num of homozygotes: 2005

South Asian
type: Population
allele count: 894
allele frequency: 1.559665038381019e-1
allele num: 5732
num of homozygotes: 33

European (Non-Finnish)
type: Population
allele count: 10114
allele frequency: 2.313357731015553e-1
allele num: 43720
num of homozygotes: 744

QD
type: SiteQuality
SIO_000300: 2.379e1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.638173e6

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.047e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 4.674e1

GenotypeQuality
all individuals: 1695
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2353
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1132
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6800
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10653
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1535
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 761
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 17
allele frequency: 2.061855670103093e-3
allele num: 8245
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4397
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6189
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.109139307897072e-4
allele num: 9016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
SIO_000300: 1.727e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 1.633083e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.13e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 10654
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1285
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6213
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5038
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variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2907
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 445
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.653327128897162e-4
allele num: 6447
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8261
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.452e0

QD
type: SiteQuality
SIO_000300: 2.798e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.035e0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

DP
type: SiteQuality
SIO_000300: 1.67326e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5811
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10640
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 587
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.193222941111964e-5
allele num: 45595
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6361
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9083
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6857
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.59e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

DP
type: SiteQuality
SIO_000300: 1.694473e6

GenotypeQuality
all individuals: 877
bin: 3.75e1
variant carriers: 13

GenotypeQuality
all individuals: 578
bin: 7.5e0
variant carriers: 14

GenotypeQuality
all individuals: 2793
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1206
bin: 3.25e1
variant carriers: 21

GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 22807
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 5390
bin: 2.25e1
variant carriers: 21

GenotypeQuality
all individuals: 1487
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2257
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 8

GenotypeQuality
all individuals: 345
bin: 1.75e1
variant carriers: 19

GenotypeQuality
all individuals: 279
bin: 1.25e1
variant carriers: 16

GenotypeQuality
all individuals: 645
bin: 5.25e1
variant carriers: 11

GenotypeQuality
all individuals: 2157
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 10178
bin: 9.75e1
variant carriers: 20

Latino
type: Population
allele count: 2
allele frequency: 2.209456473707468e-4
allele num: 9052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 1.073657369092088e-3
allele num: 44707
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.527336860670194e-3
allele num: 567
num of homozygotes: 0

African
type: Population
allele count: 36
allele frequency: 4.573170731707317e-3
allele num: 7872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 28
allele frequency: 6.625650733554188e-3
allele num: 4226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7082
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.572821642025794e-4
allele num: 6358
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

DP
type: SiteQuality
SIO_000300: 1.703748e6

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.821e0

FS
type: SiteQuality
SIO_000300: 1.38171e2

QD
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.931e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 1301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5732
bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10865
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.196458482890644e-4
allele num: 8358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4479
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9157
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.999e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

DP
type: SiteQuality
SIO_000300: 1.750242e6

QD
type: SiteQuality
SIO_000300: 2.9e1

GenotypeQuality
all individuals: 461
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26270
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3108
bin: 7.75e1
variant carriers: 0

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: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8377
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46827
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9161
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8473
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.345e0

DP
type: SiteQuality
SIO_000300: 1.756635e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.91e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.123e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 4.691e0

QD
type: SiteQuality
SIO_000300: 1.268e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

GenotypeQuality
all individuals: 2746
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 8.75e1
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
all individuals: 27038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47035
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8853
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.090869422930075e-4
allele num: 9167
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.769492e6

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -3.062e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

FS
type: SiteQuality
SIO_000300: 3.151e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 448
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 0

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

GenotypeQuality
all individuals: 27188
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variant carriers: 0

GenotypeQuality
all individuals: 3150
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4485
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8441
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 617
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.122691572914455e-5
allele num: 47110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.382e0

MQRankSum
type: SiteQuality
SIO_000300: -1.993e0

QD
type: SiteQuality
SIO_000300: 9.85e0

FS
type: SiteQuality
SIO_000300: 2.093e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.113e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.758e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.023e0

DP
type: SiteQuality
SIO_000300: 1.775436e6

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2445
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 2.75e1
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GenotypeQuality
all individuals: 3202
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variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 471
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10874
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5977
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6545
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8477
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.109259649862898e-5
allele num: 47410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4491
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

FS
type: SiteQuality
SIO_000300: 2.999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.796756e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 2.25e1
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GenotypeQuality
all individuals: 2496
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6162
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10878
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variant carriers: 1

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.1007079385753e-5
allele num: 47603
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9199
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9787
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6569
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.81046e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.37e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.167e0

QD
type: SiteQuality
SIO_000300: 1.636e1

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 499
bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8491
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.605136436597111e-3
allele num: 623
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9199
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 6.088280060882801e-4
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.243e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

QD
type: SiteQuality
SIO_000300: 2.211e1

DP
type: SiteQuality
SIO_000300: 1.811965e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.06e-2

FS
type: SiteQuality
SIO_000300: 6.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

GenotypeQuality
all individuals: 6305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 460
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variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
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GenotypeQuality
all individuals: 274
bin: 4.25e1
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GenotypeQuality
all individuals: 73
bin: 7.5e0
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GenotypeQuality
all individuals: 10890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4493
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.098900176307615e-5
allele num: 47644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9853
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.818278e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 1.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.936e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.81e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.057e0

VQSLOD
type: SiteQuality
SIO_000300: -5.129e-1

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 8.25e1
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GenotypeQuality
all individuals: 804
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.25e1
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GenotypeQuality
all individuals: 10908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47753
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4499
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9905
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

FS
type: SiteQuality
SIO_000300: 1.484e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 1.834901e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 7.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.469e0

VQSLOD
type: SiteQuality
SIO_000300: -3.345e0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10964
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9225
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4501
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8507
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.092225290819315e-5
allele num: 47796
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 3.406e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.72e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.342000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.850754e6

GenotypeQuality
all individuals: 3253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3977
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10989
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9639
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.252032520325203e-4
allele num: 9225
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6621
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 627
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47763
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8507
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4503
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.736e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.46e-2

FS
type: SiteQuality
SIO_000300: 4.301e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.850213e6

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11061
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6629
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8763
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9243
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.10167924171413e-5
allele num: 47581
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4517
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.853e-1

QD
type: SiteQuality
SIO_000300: 2.837e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.22e-2

FS
type: SiteQuality
SIO_000300: 9.515000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.830927e6

GenotypeQuality
all individuals: 6989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11069
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 24656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.414498180364769e-5
allele num: 47537
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8497
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6623
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.245348334054522e-4
allele num: 9244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 613
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.37e1

DP
type: SiteQuality
SIO_000300: 1.827985e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.953e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.94e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

GenotypeQuality
all individuals: 218
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6997
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11069
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 3279
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 611
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.169727453503334e-4
allele num: 8549
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47519
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.826561e6

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.082e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1777
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 24165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6955
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.177717583323519e-4
allele num: 8491
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 603
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.618e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.817774e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.858e0

QD
type: SiteQuality
SIO_000300: 1.242e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11079
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1778
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23535
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.133287823193105e-5
allele num: 46876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9239
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 3.356e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

DP
type: SiteQuality
SIO_000300: 1.799922e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.963e-1

QD
type: SiteQuality
SIO_000300: 1.012e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.587049674654817e-4
allele num: 6301
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6583
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.035e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.911e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 4.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.377e0

DP
type: SiteQuality
SIO_000300: 1.777054e6

GenotypeQuality
all individuals: 2132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1778
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11086
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2745
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6845
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.161788231224869e-5
allele num: 46258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9233
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 571
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8277
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.77317e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

QD
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
all individuals: 2162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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: 4077
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 571
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6575
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.324978915727786e-5
allele num: 46243
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9233
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.618384851917786e-4
allele num: 6179
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

FS
type: SiteQuality
SIO_000300: 4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.807e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

DP
type: SiteQuality
SIO_000300: 1.773157e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 2.03e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6573
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 569
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9231
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6177
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.162582989122207e-5
allele num: 46241
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

DP
type: SiteQuality
SIO_000300: 1.77292e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9219
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.699235344095157e-4
allele num: 5885
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 559
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45933
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6559
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.858e-1

MQ
type: SiteQuality
SIO_000300: 5.827e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.197e1

DP
type: SiteQuality
SIO_000300: 1.756538e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.180882385012976e-5
allele num: 45853
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.731e0

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

QD
type: SiteQuality
SIO_000300: 1.579e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.754043e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 4073
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9209
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.526717557251908e-4
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8073
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5817
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45807
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.202e0

FS
type: SiteQuality
SIO_000300: 6.64e0

DP
type: SiteQuality
SIO_000300: 1.751568e6

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28403
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4223
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 323
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.15e1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
type: SiteQuality
SIO_000300: 7.99358e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeQuality
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bin: 8.25e1
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
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2276
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.702127659574468e-4
allele num: 5875
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.6061676839062e-4
allele num: 6226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28231
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 8.02537e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

FS
type: SiteQuality
SIO_000300: 6.877e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

QD
type: SiteQuality
SIO_000300: 1.504e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 325
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.504713840114955e-5
allele num: 28533
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.609e1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 327
num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele frequency: 3.466925530439606e-5
allele num: 28844
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4275
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2329
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6023
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.52e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

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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bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.25e1
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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: 4.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6485
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3684
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30186
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 9.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 7.069e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.563e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.23402e5

GenotypeQuality
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bin: 3.25e1
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
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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: 6336
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3684
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 2.216312056737589e-4
allele num: 4512
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 9.23402e5

QD
type: SiteQuality
SIO_000300: 9.07e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.563e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4665
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.524390243902439e-4
allele num: 6560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 363
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 9.610148316622354e-5
allele num: 31217
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.63045e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 363
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4665
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31217
num of homozygotes: 0

African
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allele count: 2
allele frequency: 3.018867924528302e-4
allele num: 6625
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.409e1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

DP
type: SiteQuality
SIO_000300: 9.63045e5

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 247
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7043
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5073
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.97167989064218e-5
allele num: 33651
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2723
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.292e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

DP
type: SiteQuality
SIO_000300: 1.040274e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e0

FS
type: SiteQuality
SIO_000300: 7.132e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5823
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.735207357279195e-4
allele num: 5763
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3281
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 475
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7652
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.343e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.227e0

QD
type: SiteQuality
SIO_000300: 2.719e1

DP
type: SiteQuality
SIO_000300: 1.210714e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 1.270325203252033e-4
allele num: 7872
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.696e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.27586e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
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Other
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.570383912248629e-5
allele num: 43760
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.268499614355065e-5
allele num: 44082
num of homozygotes: 0

African
type: Population
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Latino
type: Population
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Other
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East Asian
type: Population
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MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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SIO_000300: 4.475e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

DP
type: SiteQuality
SIO_000300: 1.360041e6

GenotypeQuality
all individuals: 8325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2043
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8063
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8407
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3699
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 555
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.271539876882539e-5
allele num: 44023
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

DP
type: SiteQuality
SIO_000300: 1.362487e6

MQ
type: SiteQuality
SIO_000300: 5.99e1