5-139851816-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851816
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851816
    reference: chr 5
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7455T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7455T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7455T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1783-8T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1783-8T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.210-8T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1750-8T>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1783-8T>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

5-139851819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851819
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851819
    reference: chr 5
allele count: 3
allele frequency: 2.487685954525101e-5
allele num: 120594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7458C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1783-5C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.210-5C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7458C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7458C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1783-5C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1750-5C>T
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21867
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1783-5C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-139851820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851820
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851820
    reference: chr 5
allele count: 3
allele frequency: 2.487273450843186e-5
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7459G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1750-4G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7459G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7459G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1783-4G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1783-4G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.210-4G>A
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1783-4G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/5-139851826-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851826
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851826
    reference: chr 5
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1752C>A
  hgvsp: ENSP00000378211.3:p.Asp584Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7465C>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7465C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.212C>A
  hgvsp: ENSP00000246149.6:p.Asp71Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7465C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1785C>A
  hgvsp: ENSP00000394489.1:p.Asp595Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1785C>A
  hgvsp: ENSP00000378212.3:p.Asp595Glu
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp595Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

5-139851828-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851828
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851828
    reference: chr 5
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1754A>G
  hgvsp: ENSP00000378211.3:p.Lys585Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7467A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7467A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1787A>G
  hgvsp: ENSP00000378212.3:p.Lys596Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.214A>G
  hgvsp: ENSP00000246149.6:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1787A>G
  hgvsp: ENSP00000394489.1:p.Lys596Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7467A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys596Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-139851839-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851839
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851839
    reference: chr 5
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1798A>G
  hgvsp: ENSP00000378212.3:p.Met600Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1798A>G
  hgvsp: ENSP00000394489.1:p.Met600Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.225A>G
  hgvsp: ENSP00000246149.6:p.Met76Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1765A>G
  hgvsp: ENSP00000378211.3:p.Met589Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7478A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7478A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7478A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met600Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

5-139851846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851846
    reference: chr 5
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1805C>T
  hgvsp: ENSP00000394489.1:p.Thr602Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1805C>T
  hgvsp: ENSP00000378212.3:p.Thr602Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7485C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1772C>T
  hgvsp: ENSP00000378211.3:p.Thr591Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.232C>T
  hgvsp: ENSP00000246149.6:p.Thr78Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7485C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7485C>T
  variant of: http://identifiers.org/hgnc/33530
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr602Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

5-139851852-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851852
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851852
    reference: chr 5
allele count: 4
allele frequency: 3.313397723695764e-5
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1811T>G
  hgvsp: ENSP00000394489.1:p.Leu604Trp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7491T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7491T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1811T>G
  hgvsp: ENSP00000378212.3:p.Leu604Trp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7491T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1778T>G
  hgvsp: ENSP00000378211.3:p.Leu593Trp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.238T>G
  hgvsp: ENSP00000246149.6:p.Leu80Trp
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu604Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-139851858-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851858
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851858
    reference: chr 5
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1784G>T
  hgvsp: ENSP00000378211.3:p.Gly595Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1817G>T
  hgvsp: ENSP00000394489.1:p.Gly606Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.244G>T
  hgvsp: ENSP00000246149.6:p.Gly82Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7497G>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7497G>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1817G>T
  hgvsp: ENSP00000378212.3:p.Gly606Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7497G>T
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22035
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly606Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-139851866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851866
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851866
    reference: chr 5
allele count: 3
allele frequency: 2.485212982752622e-5
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7505C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7505C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1825C>T
  hgvsp: ENSP00000378212.3:p.Pro609Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7505C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.252C>T
  hgvsp: ENSP00000246149.6:p.Pro85Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1792C>T
  hgvsp: ENSP00000378211.3:p.Pro598Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1825C>T
  hgvsp: ENSP00000394489.1:p.Pro609Ser
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro609Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

5-139851867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851867
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851867
    reference: chr 5
allele count: 6
allele frequency: 4.970673029128144e-5
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1793C>T
  hgvsp: ENSP00000378211.3:p.Pro598Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1826C>T
  hgvsp: ENSP00000378212.3:p.Pro609Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7506C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.253C>T
  hgvsp: ENSP00000246149.6:p.Pro85Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7506C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1826C>T
  hgvsp: ENSP00000394489.1:p.Pro609Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7506C>T
  variant of: http://identifiers.org/hgnc/33530
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro609Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

5-139851868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851868
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851868
    reference: chr 5
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.254G>A
  hgvsp: ENST00000246149.6:c.254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1827G>A
  hgvsp: ENST00000421134.1:c.1827G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7507G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1794G>A
  hgvsp: ENST00000394722.3:c.1794G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7507G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7507G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1827G>A
  hgvsp: ENST00000394723.3:c.1827G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro609Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

5-139851876-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851876
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851876
    reference: chr 5
allele count: 3
allele frequency: 2.485665992774998e-5
allele num: 120692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1835A>G
  hgvsp: ENSP00000378212.3:p.His612Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7515A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1802A>G
  hgvsp: ENSP00000378211.3:p.His601Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.262A>G
  hgvsp: ENSP00000246149.6:p.His88Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7515A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7515A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1835A>G
  hgvsp: ENSP00000394489.1:p.His612Arg
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His612Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-139851881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851881
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851881
    reference: chr 5
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1807G>A
  hgvsp: ENSP00000378211.3:p.Val603Met
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+1G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7520G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7520G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7520G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1840G>A
  hgvsp: ENSP00000378212.3:p.Val614Met
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+1G>A
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43874
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1839+1G>A
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

5-139851899-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851899
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851899
    reference: chr 5
allele count: 1
allele frequency: 8.305509875251242e-6
allele num: 120402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1825G>T
  hgvsp: ENSP00000378211.3:p.Ala609Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+19G>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7538G>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7538G>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1858G>T
  hgvsp: ENSP00000378212.3:p.Ala620Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7538G>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+19G>T
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala620Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

5-139851914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851914
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851914
    reference: chr 5
allele count: 3
allele frequency: 2.504759042180142e-5
allele num: 119772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7553C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+34C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1873C>T
  hgvsp: ENSP00000378212.3:p.Arg625Cys
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1840C>T
  hgvsp: ENSP00000378211.3:p.Arg614Cys
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+34C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7553C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7553C>T
  variant of: http://identifiers.org/hgnc/33530
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg625Cys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

5-139851915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851915
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851915
    reference: chr 5
allele count: 2
allele frequency: 1.671318503167149e-5
allele num: 119666
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7554G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7554G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+35G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1874G>A
  hgvsp: ENSP00000378212.3:p.Arg625His
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+35G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1841G>A
  hgvsp: ENSP00000378211.3:p.Arg614His
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7554G>A
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24387
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg625His
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-139851923-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851923
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851923
    reference: chr 5
allele count: 4
allele frequency: 3.372396931118792e-5
allele num: 118610
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7562T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+43T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.1849T>C
  hgvsp: ENSP00000378211.3:p.Ter617GlnextTer3
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.1882T>C
  hgvsp: ENSP00000378212.3:p.Ter628GlnextTer3
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7562T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+43T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7562T>C
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21654
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ter628GlnextTer3
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

5-139851926-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851926
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851926
    reference: chr 5
allele count: 1
allele frequency: 8.441953130276222e-6
allele num: 118456
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7565A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7565A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.*1A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7565A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.*1A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+46A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+46A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-139851926-ATGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851926
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851923
    reference: chr 5
allele count: 1
allele frequency: 8.441953130276222e-6
allele num: 118456
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7569_1782+7571delTGT
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7569_1782+7571delTGT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+50_266+52delTGT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.*5_*7delTGT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.*5_*7delTGT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+50_1839+52delTGT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7569_1782+7571delTGT
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: ATGT
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-139851928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851928
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851928
    reference: chr 5
allele count: 1
allele frequency: 8.470699849221542e-6
allele num: 118054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7567G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7567G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+48G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.*3G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.*3G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+48G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7567G>A
  variant of: http://identifiers.org/hgnc/33530
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-139851933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851933
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851933
    reference: chr 5
allele count: 1
allele frequency: 8.54642417612471e-6
allele num: 117008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.*8A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7572A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.*8A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7572A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7572A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+53A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+53A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

5-139851940-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851940
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851940
    reference: chr 5
allele count: 1
allele frequency: 8.628723294101405e-6
allele num: 115892
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7579C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.*15C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.*15C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7579C>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7579C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+60C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+60C>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

5-139851952-T-TCTTCAACTAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851952
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851964
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 114262
alternate allele: TCTTCAACTAAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

5-139851967-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851967
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851967
    reference: chr 5
allele count: 14
allele frequency: 1.270671095863058e-4
allele num: 110178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.*42C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7606C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7606C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+87C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7606C>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.*42C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+87C>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

5-139851969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851969
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851969
    reference: chr 5
allele count: 1
allele frequency: 9.063882242041912e-6
allele num: 110328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7608A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.*44A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7608A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7608A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.*44A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+89A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+89A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-139851977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139851977
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139851977
    reference: chr 5
allele count: 7
allele frequency: 6.513566829195668e-5
allele num: 107468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1839+97C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378212
  ensembl transcript: ENST00000394723
  gene symbol: ANKHD1
  hgvsc: ENST00000394723.3:c.*52C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1782+7616C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1782+7616C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.266+97C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000378211
  ensembl transcript: ENST00000394722
  gene symbol: ANKHD1
  hgvsc: ENST00000394722.3:c.*52C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1782+7616C>T
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15031
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11974
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12667
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-139862115-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862115
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862114
    reference: chr 5
allele count: 25
allele frequency: 2.087682672233821e-4
allele num: 119750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1840-49delT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.267-49delT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1783-49delT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1783-49delT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1783-49delT
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: AT
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

5-139862116-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862116
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862115
    reference: chr 5
allele count: 1
allele frequency: 8.355614973262032e-6
allele num: 119680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1840-47delG
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1783-47delG
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1783-47delG
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1783-47delG
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.267-47delG
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11145
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: TG
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-139862119-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862119
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862119
    reference: chr 5
allele count: 1
allele frequency: 8.349475652928997e-6
allele num: 119768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1840-46T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1783-46T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.267-46T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1783-46T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1783-46T>C
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16069
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

5-139862123-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862123
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862123
    reference: chr 5
allele count: 1
allele frequency: 8.343345347750633e-6
allele num: 119856
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1783-42A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.267-42A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1840-42A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1783-42A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1783-42A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  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: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

5-139862141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862141
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862141
    reference: chr 5
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1783-24T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1840-24T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1783-24T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.267-24T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1783-24T>C
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

5-139862143-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862143
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862144
    reference: chr 5
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1783-16dupT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1783-16dupT
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1783-16dupT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1840-16dupT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.267-16dupT
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14180
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

5-139862152-ATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862152
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862150
    reference: chr 5
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1840-11_1840-10delTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1783-11_1783-10delTT
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1783-11_1783-10delTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1783-11_1783-10delTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.267-11_267-10delTT
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18655
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: ATT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

5-139862160-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862160
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862160
    reference: chr 5
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1783-5A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1783-5A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.267-5A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1783-5A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1840-5A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16101
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18918
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1783-5A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

5-139862167-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862167
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862167
    reference: chr 5
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1785A>T
  hgvsp: ENSP00000432016.1:p.Glu595Asp
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.3A>T
  hgvsp: ENSP00000405602.1:p.Glu1?
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1785A>T
  hgvsp: ENSP00000354085.2:p.Glu595Asp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1842A>T
  hgvsp: ENSP00000394489.1:p.Glu614Asp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.269A>T
  hgvsp: ENSP00000246149.6:p.Glu90Asp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1785A>T
  hgvsp: ENSP00000297183.6:p.Glu595Asp
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu1?
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-139862171-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862171
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862171
    reference: chr 5
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.7G>C
  hgvsp: ENSP00000405602.1:p.Glu3Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1789G>C
  hgvsp: ENSP00000354085.2:p.Glu597Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1789G>C
  hgvsp: ENSP00000297183.6:p.Glu597Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.273G>C
  hgvsp: ENSP00000246149.6:p.Glu92Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1846G>C
  hgvsp: ENSP00000394489.1:p.Glu616Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1789G>C
  hgvsp: ENSP00000432016.1:p.Glu597Gln
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu597Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

5-139862195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862195
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862195
    reference: chr 5
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.297T>C
  hgvsp: ENST00000246149.6:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.31T>C
  hgvsp: ENST00000412116.1:c.31T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1813T>C
  hgvsp: ENST00000532219.1:c.1813T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1870T>C
  hgvsp: ENST00000421134.1:c.1870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1813T>C
  hgvsp: ENST00000297183.6:c.1813T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1813T>C
  hgvsp: ENST00000360839.2:c.1813T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16101
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu605Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

5-139862197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862197
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862197
    reference: chr 5
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1815G>A
  hgvsp: ENST00000297183.6:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1815G>A
  hgvsp: ENST00000532219.1:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1872G>A
  hgvsp: ENST00000421134.1:c.1872G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1815G>A
  hgvsp: ENST00000360839.2:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.299G>A
  hgvsp: ENST00000246149.6:c.299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.33G>A
  hgvsp: ENST00000412116.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu605Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

5-139862244-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862244
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862244
    reference: chr 5
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1862T>C
  hgvsp: ENSP00000432016.1:p.Ile621Thr
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.346T>C
  hgvsp: ENSP00000246149.6:p.Ile116Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1919T>C
  hgvsp: ENSP00000394489.1:p.Ile640Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.80T>C
  hgvsp: ENSP00000405602.1:p.Ile27Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1862T>C
  hgvsp: ENSP00000297183.6:p.Ile621Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1862T>C
  hgvsp: ENSP00000354085.2:p.Ile621Thr
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile621Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

5-139862246-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862246
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862246
    reference: chr 5
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1864A>G
  hgvsp: ENSP00000297183.6:p.Ser622Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1864A>G
  hgvsp: ENSP00000354085.2:p.Ser622Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.348A>G
  hgvsp: ENSP00000246149.6:p.Ser117Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.82A>G
  hgvsp: ENSP00000405602.1:p.Ser28Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1921A>G
  hgvsp: ENSP00000394489.1:p.Ser641Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1864A>G
  hgvsp: ENSP00000432016.1:p.Ser622Gly
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser622Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-139862250-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862250
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862250
    reference: chr 5
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1868A>C
  hgvsp: ENSP00000432016.1:p.Lys623Thr
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.352A>C
  hgvsp: ENSP00000246149.6:p.Lys118Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1868A>C
  hgvsp: ENSP00000297183.6:p.Lys623Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.86A>C
  hgvsp: ENSP00000405602.1:p.Lys29Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1868A>C
  hgvsp: ENSP00000354085.2:p.Lys623Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1925A>C
  hgvsp: ENSP00000394489.1:p.Lys642Thr
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys623Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

5-139862258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862258
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862258
    reference: chr 5
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+6G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+6G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+6G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+6G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+6G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+6G>A
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1870+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-139862288-A-AAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862288
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862290
    reference: chr 5
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: AAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+36_1927+37insAC
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+36_88+37insAC
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+36_1870+37insAC
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+36_1870+37insAC
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+36_1870+37insAC
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+36_354+37insAC
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-139862289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862289
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862289
    reference: chr 5
allele count: 2
allele frequency: 1.660302174995849e-5
allele num: 120460
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+37C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+37C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+37C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+37C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+37C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+37C>T
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4911
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

5-139862294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862294
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862294
    reference: chr 5
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+42T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+42T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+42T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+42T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+42T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+42T>C
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

5-139862294-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862294
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862294
    reference: chr 5
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+42T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+42T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+42T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+42T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+42T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+42T>G
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

5-139862296-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862296
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862295
    reference: chr 5
allele count: 15
allele frequency: 1.249021599746865e-4
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+46delG
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+46delG
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+46delG
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+46delG
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+46delG
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+46delG
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10612
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: TG
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

5-139862297-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862297
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862297
    reference: chr 5
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+45G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+45G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+45G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+45G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+45G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+45G>A
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16094
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

5-139862298-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862298
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862299
    reference: chr 5
allele count: 35
allele frequency: 3.176216490916021e-4
allele num: 110194
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+55dupA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+55dupA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+55dupA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+55dupA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+55dupA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+55dupA
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10484
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4942
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 8693
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 4.75e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

5-139862298-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862298
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862297
    reference: chr 5
allele count: 119
allele frequency: 1.079913606911447e-3
allele num: 110194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+55delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+55delA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+55delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+55delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+55delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+55delA
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10484
  bin: 3.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 3.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 14064
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8693
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: GA
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

5-139862299-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862299
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862299
    reference: chr 5
allele count: 27
allele frequency: 2.409466526263185e-4
allele num: 112058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+47A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+47A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+47A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+47A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+47A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+47A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10531
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10528
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-139862304-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862304
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862304
    reference: chr 5
allele count: 1
allele frequency: 8.348360382020972e-6
allele num: 119784
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+52A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+52A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+52A>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+52A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+52A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+52A>C
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

5-139862304-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139862304
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139862304
    reference: chr 5
allele count: 4
allele frequency: 3.339344152808389e-5
allele num: 119784
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1870+52A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1927+52A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.354+52A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.88+52A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1870+52A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1870+52A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15842
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6439
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

5-139864666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864666
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864666
    reference: chr 5
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1871-40G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.322G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1871-40G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1928-40G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1871-40G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.89-40G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.355-40G>A
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-139864669-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864669
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864669
    reference: chr 5
allele count: 4
allele frequency: 3.33072426599164e-5
allele num: 120094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.325A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.355-37A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1871-37A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.89-37A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1871-37A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1928-37A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1871-37A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

5-139864670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864670
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864670
    reference: chr 5
allele count: 3
allele frequency: 2.497544081653041e-5
allele num: 120118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.355-36A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1928-36A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1871-36A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1871-36A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1871-36A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.89-36A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.326A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-139864686-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864686
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864686
    reference: chr 5
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1871-20C>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.89-20C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.355-20C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.342C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1871-20C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1871-20C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1928-20C>A
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

5-139864686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864686
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864686
    reference: chr 5
allele count: 2
allele frequency: 1.659007581664648e-5
allele num: 120554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1928-20C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.342C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1871-20C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1871-20C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.355-20C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1871-20C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.89-20C>T
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

5-139864687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864687
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864687
    reference: chr 5
allele count: 7
allele frequency: 5.801810164771409e-5
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1871-19G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1871-19G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.355-19G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1871-19G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.343G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.89-19G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1928-19G>A
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29627
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

5-139864712-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864712
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864712
    reference: chr 5
allele count: 3
allele frequency: 2.475451769948015e-5
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1877A>G
  hgvsp: ENSP00000354085.2:p.Asn626Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1934A>G
  hgvsp: ENSP00000394489.1:p.Asn645Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1877A>G
  hgvsp: ENSP00000297183.6:p.Asn626Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.361A>G
  hgvsp: ENSP00000246149.6:p.Asn121Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1877A>G
  hgvsp: ENSP00000432016.1:p.Asn626Ser
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.368A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.95A>G
  hgvsp: ENSP00000405602.1:p.Asn32Ser
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn626Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

5-139864732-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864732
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864732
    reference: chr 5
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1897A>G
  hgvsp: ENSP00000354085.2:p.Asn633Asp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.381A>G
  hgvsp: ENSP00000246149.6:p.Asn128Asp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.115A>G
  hgvsp: ENSP00000405602.1:p.Asn39Asp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1897A>G
  hgvsp: ENSP00000432016.1:p.Asn633Asp
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1897A>G
  hgvsp: ENSP00000297183.6:p.Asn633Asp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1954A>G
  hgvsp: ENSP00000394489.1:p.Asn652Asp
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.388A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45589
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn633Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

5-139864738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864738
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864738
    reference: chr 5
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1903G>A
  hgvsp: ENSP00000354085.2:p.Asp635Asn
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1903G>A
  hgvsp: ENSP00000432016.1:p.Asp635Asn
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1903G>A
  hgvsp: ENSP00000297183.6:p.Asp635Asn
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.394G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.121G>A
  hgvsp: ENSP00000405602.1:p.Asp41Asn
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.387G>A
  hgvsp: ENSP00000246149.6:p.Asp130Asn
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1960G>A
  hgvsp: ENSP00000394489.1:p.Asp654Asn
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp635Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

5-139864749-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864749
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864749
    reference: chr 5
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1971A>G
  hgvsp: ENST00000421134.1:c.1971A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.405A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.132A>G
  hgvsp: ENST00000412116.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1914A>G
  hgvsp: ENST00000360839.2:c.1914A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1914A>G
  hgvsp: ENST00000297183.6:c.1914A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1914A>G
  hgvsp: ENST00000532219.1:c.1914A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.398A>G
  hgvsp: ENST00000246149.6:c.398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val638Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

5-139864755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864755
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864755
    reference: chr 5
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.411G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.404G>A
  hgvsp: ENST00000246149.6:c.404G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1920G>A
  hgvsp: ENST00000532219.1:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1977G>A
  hgvsp: ENST00000421134.1:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1920G>A
  hgvsp: ENST00000297183.6:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1920G>A
  hgvsp: ENST00000360839.2:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.138G>A
  hgvsp: ENST00000412116.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser640Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

5-139864776-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864776
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864776
    reference: chr 5
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1941C>G
  hgvsp: ENSP00000432016.1:p.His647Gln
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1941C>G
  hgvsp: ENSP00000354085.2:p.His647Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1941C>G
  hgvsp: ENSP00000297183.6:p.His647Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.432C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1998C>G
  hgvsp: ENSP00000394489.1:p.His666Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.159C>G
  hgvsp: ENSP00000405602.1:p.His53Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.425C>G
  hgvsp: ENSP00000246149.6:p.His142Gln
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His647Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

5-139864776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864776
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864776
    reference: chr 5
allele count: 1
allele frequency: 8.253412786187088e-6
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1941C>T
  hgvsp: ENST00000532219.1:c.1941C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.432C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1941C>T
  hgvsp: ENST00000297183.6:c.1941C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.1998C>T
  hgvsp: ENST00000421134.1:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1941C>T
  hgvsp: ENST00000360839.2:c.1941C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.159C>T
  hgvsp: ENST00000412116.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.425C>T
  hgvsp: ENST00000246149.6:c.425C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His647His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-139864782-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864782
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864782
    reference: chr 5
allele count: 4
allele frequency: 3.302182742792986e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.2004A>T
  hgvsp: ENST00000421134.1:c.2004A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1947A>T
  hgvsp: ENST00000532219.1:c.1947A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.165A>T
  hgvsp: ENST00000412116.1:c.165A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.438A>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1947A>T
  hgvsp: ENST00000297183.6:c.1947A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1947A>T
  hgvsp: ENST00000360839.2:c.1947A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.431A>T
  hgvsp: ENST00000246149.6:c.431A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala649Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

5-139864797-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864797
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864797
    reference: chr 5
allele count: 2
allele frequency: 1.653630545863443e-5
allele num: 120946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.2019C>G
  hgvsp: ENST00000421134.1:c.2019C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.180C>G
  hgvsp: ENST00000412116.1:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1962C>G
  hgvsp: ENST00000360839.2:c.1962C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1962C>G
  hgvsp: ENST00000297183.6:c.1962C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.453C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.446C>G
  hgvsp: ENST00000246149.6:c.446C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1962C>G
  hgvsp: ENST00000532219.1:c.1962C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu654Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

5-139864812-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864812
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864812
    reference: chr 5
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1977T>G
  hgvsp: ENST00000360839.2:c.1977T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1977T>G
  hgvsp: ENST00000297183.6:c.1977T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1977T>G
  hgvsp: ENST00000532219.1:c.1977T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.468T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.195T>G
  hgvsp: ENST00000412116.1:c.195T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.2034T>G
  hgvsp: ENST00000421134.1:c.2034T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.461T>G
  hgvsp: ENST00000246149.6:c.461T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala659Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

5-139864837-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864837
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864837
    reference: chr 5
allele count: 1
allele frequency: 8.694896095991653e-6
allele num: 115010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.2055+4G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.482+4G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1998+4G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.216+4G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1998+4G>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.489+4G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1998+4G>C
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1998+4G>C
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

5-139864850-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139864850
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139864850
    reference: chr 5
allele count: 1
allele frequency: 9.11244760342628e-6
allele num: 109740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.1998+17T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.1998+17T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.1998+17T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000394489
  ensembl transcript: ENST00000421134
  gene symbol: ANKHD1
  hgvsc: ENST00000421134.1:c.2055+17T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000246149
  ensembl transcript: ENST00000246149
  gene symbol: ANKHD1
  hgvsc: ENST00000246149.6:c.482+17T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405602
  ensembl transcript: ENST00000412116
  gene symbol: ANKHD1
  hgvsc: ENST00000412116.1:c.216+17T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000465435
  gene symbol: ANKHD1
  hgvsc: ENST00000465435.1:n.489+17T>C
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18293
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

GenotypeQuality
all individuals: 2743
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43696
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.612993e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.309e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 1922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43740
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 894
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.213e0

DP
type: SiteQuality
SIO_000300: 1.61409e6

FS
type: SiteQuality
SIO_000300: 4.701e0

MQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.25e-1

QD
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SIO_000300: 1.039e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
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Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.83e-2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.297e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.146e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.233e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.124e0

DP
type: SiteQuality
SIO_000300: 1.615523e6

QD
type: SiteQuality
SIO_000300: 1.01e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
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MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
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SIO_000300: -2.367e0

VQSLOD
type: SiteQuality
SIO_000300: -9.06e-2

DP
type: SiteQuality
SIO_000300: 1.615759e6

FS
type: SiteQuality
SIO_000300: 8.932e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2741
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 5.684e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.098e0

QD
type: SiteQuality
SIO_000300: 1.31e1

DP
type: SiteQuality
SIO_000300: 1.616433e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.531e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 37
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -5.22e-1

DP
type: SiteQuality
SIO_000300: 1.616633e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.727e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.968e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.994664748373947e-5
allele num: 66726
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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SIO_000300: 1.76e0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8618
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

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

African
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allele count: 6
allele frequency: 6.12119975515201e-4
allele num: 9802
num of homozygotes: 0

European (Finnish)
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South Asian
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allele count: 0
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Latino
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East Asian
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allele frequency: 0.0e0
allele num: 8618
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

QD
type: SiteQuality
SIO_000300: 1.047e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.19e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: -3.48e-1

DP
type: SiteQuality
SIO_000300: 1.617003e6

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.096e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 1.528e0

DP
type: SiteQuality
SIO_000300: 1.616794e6

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
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GenotypeQuality
all individuals: 722
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2742
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49748141041017e-5
allele num: 66704
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 4.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

QD
type: SiteQuality
SIO_000300: 1.367e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

DP
type: SiteQuality
SIO_000300: 1.616674e6

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2740
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

DP
type: SiteQuality
SIO_000300: 1.616174e6

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
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GenotypeQuality
all individuals: 1270
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variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 1.469e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.611731e6

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 2129
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 6867
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variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.128953174797744e-5
allele num: 16316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.60081e6

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

FS
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.509e0

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 207
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GenotypeQuality
all individuals: 6848
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variant carriers: 0

GenotypeQuality
all individuals: 2738
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2123
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variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019414837404511e-5
allele num: 66238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.145e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

DP
type: SiteQuality
SIO_000300: 1.598549e6

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

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 1866
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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
all individuals: 444
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variant carriers: 0

GenotypeQuality
all individuals: 6658
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.567600487210719e-5
allele num: 65680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-1

FS
type: SiteQuality
SIO_000300: 5.432e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

DP
type: SiteQuality
SIO_000300: 1.575269e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.544e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
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variant carriers: 0

GenotypeQuality
all individuals: 523
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GenotypeQuality
all individuals: 39630
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 2735
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1261
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GenotypeQuality
all individuals: 1859
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.185822095756526e-5
allele num: 16166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 1.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

DP
type: SiteQuality
SIO_000300: 1.570932e6

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

QD
type: SiteQuality
SIO_000300: 1.591e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 133
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GenotypeQuality
all individuals: 262
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variant carriers: 0

GenotypeQuality
all individuals: 715
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GenotypeQuality
all individuals: 1859
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GenotypeQuality
all individuals: 616
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GenotypeQuality
all individuals: 2735
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variant carriers: 1

GenotypeQuality
all individuals: 2100
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.185822095756526e-5
allele num: 16166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

QD
type: SiteQuality
SIO_000300: 1.591e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.897e1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 1.468e0

DP
type: SiteQuality
SIO_000300: 1.570932e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.78e-1

GenotypeQuality
all individuals: 1852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 38550
bin: 6.25e1
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GenotypeQuality
all individuals: 279
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GenotypeQuality
all individuals: 3095
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GenotypeQuality
all individuals: 6593
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GenotypeQuality
all individuals: 1258
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.04602510460251e-4
allele num: 9560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65392
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 9.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.913e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

DP
type: SiteQuality
SIO_000300: 1.560552e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

GenotypeQuality
all individuals: 4470
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542020046260601e-5
allele num: 64850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.504e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.527623e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.288e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.769e0

QD
type: SiteQuality
SIO_000300: 1.454e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 706
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variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 403
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10842
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.062473438164046e-4
allele num: 9412
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.275e0

FS
type: SiteQuality
SIO_000300: 4.063e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.483212e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.225e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

GenotypeQuality
all individuals: 4702
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 949
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.398e0

DP
type: SiteQuality
SIO_000300: 1.372478e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.463e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.737e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 4.996e1

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

GenotypeQuality
all individuals: 941
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6696
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1259
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.327316166710911e-4
allele num: 7534
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.614457831325301e-3
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.847953216374269e-4
allele num: 15390
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60928
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.241788e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

GenotypeQuality
all individuals: 680
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6785
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4222
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10612
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61062
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.10692937790569e-4
allele num: 9034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 1.236123e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.177e1

FS
type: SiteQuality
SIO_000300: 1.922e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 4.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 1198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3309
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5447
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variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1579
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variant carriers: 0

GenotypeQuality
all individuals: 6952
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variant carriers: 0

GenotypeQuality
all individuals: 4393
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.179046656560552e-4
allele num: 59370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 2.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.223381e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

GenotypeQuality
all individuals: 1327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
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variant carriers: 0

GenotypeQuality
all individuals: 16097
bin: 9.75e1
variant carriers: 25

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 1.754693805930865e-3
allele num: 11398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.556777446989489e-5
allele num: 65836
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.147603e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.629e1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 6.008e1

GenotypeQuality
all individuals: 10761
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16073
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2944
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.094588005850804e-5
allele num: 16408
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 7.21e0

DP
type: SiteQuality
SIO_000300: 2.14842e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.347e0

GenotypeQuality
all individuals: 12488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6649
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variant carriers: 0

GenotypeQuality
all individuals: 3605
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variant carriers: 0

GenotypeQuality
all individuals: 4841
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variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518141794443601e-5
allele num: 65870
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.67e-2

QD
type: SiteQuality
SIO_000300: 1.644e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 2.156465e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

GenotypeQuality
all individuals: 4836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 4.25e1
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GenotypeQuality
all individuals: 3655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16075
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 937
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.76731544800982e-5
allele num: 11406
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.170316e6

FS
type: SiteQuality
SIO_000300: 1.399e0

VQSLOD
type: SiteQuality
SIO_000300: -1.659e0

QD
type: SiteQuality
SIO_000300: 5.81e0

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4952
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16101
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.211839e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4945
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4132
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506931886678722e-5
allele num: 66360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 7.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

DP
type: SiteQuality
SIO_000300: 2.213808e6

GenotypeQuality
all individuals: 4953
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16100
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2307
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.219349e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

FS
type: SiteQuality
SIO_000300: 1.203e0

QD
type: SiteQuality
SIO_000300: 2.109e1

MQ
type: SiteQuality
SIO_000300: 6.042e1

GenotypeQuality
all individuals: 4960
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7167
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.563e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 2.222582e6

GenotypeQuality
all individuals: 16102
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4138
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

QD
type: SiteQuality
SIO_000300: 8.33e0

FS
type: SiteQuality
SIO_000300: 3.694e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 2.2242e6

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19002
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16102
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

DP
type: SiteQuality
SIO_000300: 2.22476e6

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.461e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.722e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 2.646e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.764e0

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

GenotypeQuality
all individuals: 7194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19114
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 2.226006e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 7.57e-1

QD
type: SiteQuality
SIO_000300: 1.752e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-1

GenotypeQuality
all individuals: 16102
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7193
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.048e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.248e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.226108e6

VQSLOD
type: SiteQuality
SIO_000300: -5.648e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.561e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 18958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16101
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2306
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4945
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 2.224006e6

FS
type: SiteQuality
SIO_000300: 5.15e0

VQSLOD
type: SiteQuality
SIO_000300: -3.632e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.692e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

QD
type: SiteQuality
SIO_000300: 1.763e1

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2306
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4944
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 8.379e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.84e-2

DP
type: SiteQuality
SIO_000300: 2.223778e6

QD
type: SiteQuality
SIO_000300: 1.16e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16101
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.222223e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 6.777e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 6.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -3.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16100
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3749
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.154e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

FS
type: SiteQuality
SIO_000300: 9.92e0

VQSLOD
type: SiteQuality
SIO_000300: -7.69e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.386e0

DP
type: SiteQuality
SIO_000300: 2.220929e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16099
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3704
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.528e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.271e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.032e1

DP
type: SiteQuality
SIO_000300: 2.195963e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.67e-1

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16100
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.908e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.331e0

MQ
type: SiteQuality
SIO_000300: 4.212e1

QD
type: SiteQuality
SIO_000300: 1.847e1

DP
type: SiteQuality
SIO_000300: 2.194366e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16098
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6727
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.45e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.69e0

DP
type: SiteQuality
SIO_000300: 2.187754e6

VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

GenotypeQuality
all individuals: 6727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16098
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12943
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

DP
type: SiteQuality
SIO_000300: 2.187754e6

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 7.45e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

GenotypeQuality
all individuals: 1319
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16114
bin: 9.75e1
variant carriers: 15

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

South Asian
type: Population
allele count: 15
allele frequency: 9.113001215066828e-4
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 1.047e1

DP
type: SiteQuality
SIO_000300: 2.188342e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.34e-1

FS
type: SiteQuality
SIO_000300: 2.968e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

GenotypeQuality
all individuals: 4901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.738203425375742e-5
allele num: 11444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

DP
type: SiteQuality
SIO_000300: 2.187885e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.153e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.056e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

GenotypeQuality
all individuals: 903
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 1132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14064
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2868
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3735
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.927079227433977e-4
allele num: 10148
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.894080996884735e-4
allele num: 7704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.470271342168754e-4
allele num: 60514
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.892060197197717e-4
allele num: 15416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 2.282933e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.888e-1

QD
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 3.736e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 1719
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 833
bin: 1.25e1
variant carriers: 35

GenotypeQuality
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bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 903
bin: 7.5e0
variant carriers: 17

GenotypeQuality
all individuals: 1967
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1508
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 4942
bin: 6.75e1
variant carriers: 6

Latino
type: Population
allele count: 10
allele frequency: 9.854158454867955e-4
allele num: 10148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 62
allele frequency: 1.024556301021251e-3
allele num: 60514
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.947040498442368e-3
allele num: 7704
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 9.081473793461339e-4
allele num: 15416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.298279779292437e-3
allele num: 6162
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.566326530612245e-4
allele num: 9408
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.187648456057007e-3
allele num: 842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.282933e6

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -9.888e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.736e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 1254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14153
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 2349
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3028
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3241
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.256586446087211e-5
allele num: 61414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

East Asian
type: Population
allele count: 24
allele frequency: 3.045685279187817e-3
allele num: 7880
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.046901172529313e-4
allele num: 9552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

QD
type: SiteQuality
SIO_000300: 8.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.262164e6

VQSLOD
type: SiteQuality
SIO_000300: -7.530000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.488e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15842
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516944267467613e-5
allele num: 65922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

FS
type: SiteQuality
SIO_000300: 4.218e0

DP
type: SiteQuality
SIO_000300: 2.246887e6

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8812
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.800768122899664e-4
allele num: 8332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.218e0

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.246887e6

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

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

GenotypeQuality
all individuals: 447
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7748
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.192e0

QD
type: SiteQuality
SIO_000300: 1.166e1

DP
type: SiteQuality
SIO_000300: 1.647955e6

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7790
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1971
bin: 9.75e1
variant carriers: 4

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.901915264074289e-4
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.332e0

VQSLOD
type: SiteQuality
SIO_000300: -1.15e0

FS
type: SiteQuality
SIO_000300: 1.0289e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.99e-1

DP
type: SiteQuality
SIO_000300: 1.651497e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.032e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.600104004160167e-4
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66292
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

DP
type: SiteQuality
SIO_000300: 1.652622e6

QD
type: SiteQuality
SIO_000300: 1.287e1

FS
type: SiteQuality
SIO_000300: 6.357e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44269
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.029999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.472e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

DP
type: SiteQuality
SIO_000300: 1.677837e6

GenotypeQuality
all individuals: 310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1966
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16094
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01050666827227e-5
allele num: 66434
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 8.029999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.472e0

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

DP
type: SiteQuality
SIO_000300: 1.677837e6

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.028258448945198e-5
allele num: 66458
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 2.235e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.105e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

DP
type: SiteQuality
SIO_000300: 1.67957e6

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45469
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7976
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.532e0

DP
type: SiteQuality
SIO_000300: 1.691702e6

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.425e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1947
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7964
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

QD
type: SiteQuality
SIO_000300: 2.743e1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.554e0

DP
type: SiteQuality
SIO_000300: 1.69273e6

VQSLOD
type: SiteQuality
SIO_000300: -7.044e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.69302e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

QD
type: SiteQuality
SIO_000300: 1.085e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 1.537e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

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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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.692352e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

FS
type: SiteQuality
SIO_000300: 9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1945
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.78e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.235e0

FS
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.172e1

DP
type: SiteQuality
SIO_000300: 1.692245e6

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7889
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variant carriers: 0

GenotypeQuality
all individuals: 9
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1938
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variant carriers: 1

GenotypeQuality
all individuals: 1630
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

FS
type: SiteQuality
SIO_000300: 1.416e0

DP
type: SiteQuality
SIO_000300: 1.690529e6

QD
type: SiteQuality
SIO_000300: 9.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.416e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 9.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.690529e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.003662233962717e-5
allele num: 66626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.771e0

QD
type: SiteQuality
SIO_000300: 1.309e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

DP
type: SiteQuality
SIO_000300: 1.689578e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005801196308876e-5
allele num: 66538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.916e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.418e0

DP
type: SiteQuality
SIO_000300: 1.68629e6

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

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

South Asian
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.885e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 1.67676e6

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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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.982032341784787e-5
allele num: 10018
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
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
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num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 1.8529e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 1.525743e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1857
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.660467587672689e-5
allele num: 60224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -1.085e0

MQ
type: SiteQuality
SIO_000300: 4.872e1