5-139916993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139916993
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139916993
    reference: chr 5
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2221G>A
  hgvsp: ENST00000432301.1:c.2221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2664G>A
  hgvsp: ENST00000433049.1:c.2664G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3066G>A
  hgvsp: ENST00000431508.1:c.3066G>A(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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1219G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2518G>A
  hgvsp: ENST00000435794.1:c.2518G>A(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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.360G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*167C>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2019G>A
  hgvsp: ENST00000544120.1:c.2019G>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.7047G>A
  hgvsp: ENST00000532219.1:c.7047G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7047G>A
  hgvsp: ENST00000360839.2:c.7047G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.20G>A
  hgvsp: ENST00000421706.1:c.20G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1131G>A
  hgvsp: ENST00000437495.1:c.1131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7047G>A
  hgvsp: ENST00000297183.6:c.7047G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2349Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

5-139917018-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917018
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917018
    reference: chr 5
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1156G>T
  hgvsp: ENSP00000396882.1:p.Ala386Ser
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3091G>T
  hgvsp: ENSP00000393204.1:p.Ala1031Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*142C>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.385G>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2689G>T
  hgvsp: ENSP00000390034.1:p.Ala897Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1244G>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2246G>T
  hgvsp: ENSP00000415887.1:p.Ala750Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2044G>T
  hgvsp: ENSP00000437687.1:p.Ala682Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.45G>T
  hgvsp: ENSP00000405345.1:p.Ala16Ser
  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.7072G>T
  hgvsp: ENSP00000432016.1:p.Ala2358Ser
  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.7072G>T
  hgvsp: ENSP00000297183.6:p.Ala2358Ser
  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.7072G>T
  hgvsp: ENSP00000354085.2:p.Ala2358Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2543G>T
  hgvsp: ENSP00000410959.1:p.Ala849Ser
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2358Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

5-139917029-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917029
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917029
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.56T>A
  hgvsp: ENSP00000405345.1:p.Asp19Glu
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.396T>A
  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.7083T>A
  hgvsp: ENSP00000354085.2:p.Asp2361Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3102T>A
  hgvsp: ENSP00000393204.1:p.Asp1034Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2554T>A
  hgvsp: ENSP00000410959.1:p.Asp852Glu
  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.7083T>A
  hgvsp: ENSP00000432016.1:p.Asp2361Glu
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2257T>A
  hgvsp: ENSP00000415887.1:p.Asp753Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2700T>A
  hgvsp: ENSP00000390034.1:p.Asp900Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*131A>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1255T>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1167T>A
  hgvsp: ENSP00000396882.1:p.Asp389Glu
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2055T>A
  hgvsp: ENSP00000437687.1:p.Asp685Glu
  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.7083T>A
  hgvsp: ENSP00000297183.6:p.Asp2361Glu
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp2361Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

5-139917031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917031
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917031
    reference: chr 5
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.58G>A
  hgvsp: ENSP00000405345.1:p.Arg20Gln
  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.7085G>A
  hgvsp: ENSP00000354085.2:p.Arg2362Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2259G>A
  hgvsp: ENSP00000415887.1:p.Arg754Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2702G>A
  hgvsp: ENSP00000390034.1:p.Arg901Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1257G>A
  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.7085G>A
  hgvsp: ENSP00000297183.6:p.Arg2362Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1169G>A
  hgvsp: ENSP00000396882.1:p.Arg390Gln
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7085G>A
  hgvsp: ENSP00000432016.1:p.Arg2362Gln
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2556G>A
  hgvsp: ENSP00000410959.1:p.Arg853Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3104G>A
  hgvsp: ENSP00000393204.1:p.Arg1035Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2057G>A
  hgvsp: ENSP00000437687.1:p.Arg686Gln
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.398G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/11281
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg2362Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

5-139917076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917076
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917076
    reference: chr 5
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
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.7130G>A
  hgvsp: ENSP00000354085.2:p.Arg2377Gln
  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.7130G>A
  hgvsp: ENSP00000432016.1:p.Arg2377Gln
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2601G>A
  hgvsp: ENSP00000410959.1:p.Arg868Gln
  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.7130G>A
  hgvsp: ENSP00000297183.6:p.Arg2377Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2102G>A
  hgvsp: ENSP00000437687.1:p.Arg701Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2747G>A
  hgvsp: ENSP00000390034.1:p.Arg916Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1302G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2304G>A
  hgvsp: ENSP00000415887.1:p.Arg769Gln
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.443G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3149G>A
  hgvsp: ENSP00000393204.1:p.Arg1050Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.103G>A
  hgvsp: ENSP00000405345.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1214G>A
  hgvsp: ENSP00000396882.1:p.Arg405Gln
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*84C>T
  variant of: http://identifiers.org/hgnc/11281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg2377Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

5-139917077-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917077
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917077
    reference: chr 5
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7131G>T
  hgvsp: ENST00000360839.2:c.7131G>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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1303G>T
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.444G>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3150G>T
  hgvsp: ENST00000431508.1:c.3150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2748G>T
  hgvsp: ENST00000433049.1:c.2748G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2103G>T
  hgvsp: ENST00000544120.1:c.2103G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2305G>T
  hgvsp: ENST00000432301.1:c.2305G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.104G>T
  hgvsp: ENST00000421706.1:c.104G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2602G>T
  hgvsp: ENST00000435794.1:c.2602G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*83C>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1215G>T
  hgvsp: ENST00000437495.1:c.1215G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7131G>T
  hgvsp: ENST00000297183.6:c.7131G>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.7131G>T
  hgvsp: ENST00000532219.1:c.7131G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg2377Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

5-139917085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917085
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917085
    reference: chr 5
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7139G>A
  hgvsp: ENSP00000297183.6:p.Gly2380Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*75C>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2756G>A
  hgvsp: ENSP00000390034.1:p.Gly919Glu
  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.7139G>A
  hgvsp: ENSP00000354085.2:p.Gly2380Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2313G>A
  hgvsp: ENSP00000415887.1:p.Gly772Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3158G>A
  hgvsp: ENSP00000393204.1:p.Gly1053Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1311G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2610G>A
  hgvsp: ENSP00000410959.1:p.Gly871Glu
  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.7139G>A
  hgvsp: ENSP00000432016.1:p.Gly2380Glu
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.112G>A
  hgvsp: ENSP00000405345.1:p.Gly38Glu
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.452G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2111G>A
  hgvsp: ENSP00000437687.1:p.Gly704Glu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1223G>A
  hgvsp: ENSP00000396882.1:p.Gly408Glu
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2380Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-139917086-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917086
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917086
    reference: chr 5
allele count: 3
allele frequency: 2.477741621103751e-5
allele num: 121078
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7140G>T
  hgvsp: ENST00000297183.6:c.7140G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.113G>T
  hgvsp: ENST00000421706.1:c.113G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3159G>T
  hgvsp: ENST00000431508.1:c.3159G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1224G>T
  hgvsp: ENST00000437495.1:c.1224G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7140G>T
  hgvsp: ENST00000532219.1:c.7140G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2757G>T
  hgvsp: ENST00000433049.1:c.2757G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2611G>T
  hgvsp: ENST00000435794.1:c.2611G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2314G>T
  hgvsp: ENST00000432301.1:c.2314G>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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1312G>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7140G>T
  hgvsp: ENST00000360839.2:c.7140G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*74C>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.453G>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2112G>T
  hgvsp: ENST00000544120.1:c.2112G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly2380Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

5-139917091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917091
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917091
    reference: chr 5
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1317T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2319T>C
  hgvsp: ENSP00000415887.1:p.Val774Ala
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.458T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1229T>C
  hgvsp: ENSP00000396882.1:p.Val410Ala
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*69A>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2616T>C
  hgvsp: ENSP00000410959.1:p.Val873Ala
  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.7145T>C
  hgvsp: ENSP00000432016.1:p.Val2382Ala
  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.7145T>C
  hgvsp: ENSP00000354085.2:p.Val2382Ala
  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.7145T>C
  hgvsp: ENSP00000297183.6:p.Val2382Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.118T>C
  hgvsp: ENSP00000405345.1:p.Val40Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2762T>C
  hgvsp: ENSP00000390034.1:p.Val921Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3164T>C
  hgvsp: ENSP00000393204.1:p.Val1055Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2117T>C
  hgvsp: ENSP00000437687.1:p.Val706Ala
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2382Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

5-139917102-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917102
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917102
    reference: chr 5
allele count: 127
allele frequency: 1.058545042341802e-3
allele num: 119976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.469C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1240C>G
  hgvsp: ENSP00000396882.1:p.Pro414Ala
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3175C>G
  hgvsp: ENSP00000393204.1:p.Pro1059Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2128C>G
  hgvsp: ENSP00000437687.1:p.Pro710Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.129C>G
  hgvsp: ENSP00000405345.1:p.Pro44Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2627C>G
  hgvsp: ENSP00000410959.1:p.Pro877Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2773C>G
  hgvsp: ENSP00000390034.1:p.Pro925Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*58G>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7156C>G
  hgvsp: ENSP00000432016.1:p.Pro2386Ala
  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.7156C>G
  hgvsp: ENSP00000354085.2:p.Pro2386Ala
  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.7156C>G
  hgvsp: ENSP00000297183.6:p.Pro2386Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2330C>G
  hgvsp: ENSP00000415887.1:p.Pro778Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1328C>G
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 41162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2386Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-139917102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917102
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917102
    reference: chr 5
allele count: 1
allele frequency: 8.335000333400014e-6
allele num: 119976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7156C>T
  hgvsp: ENSP00000354085.2:p.Pro2386Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.129C>T
  hgvsp: ENSP00000405345.1:p.Pro44Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1328C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2627C>T
  hgvsp: ENSP00000410959.1:p.Pro877Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3175C>T
  hgvsp: ENSP00000393204.1:p.Pro1059Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2330C>T
  hgvsp: ENSP00000415887.1:p.Pro778Ser
  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.7156C>T
  hgvsp: ENSP00000297183.6:p.Pro2386Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*58G>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2128C>T
  hgvsp: ENSP00000437687.1:p.Pro710Ser
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.469C>T
  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.7156C>T
  hgvsp: ENSP00000432016.1:p.Pro2386Ser
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2773C>T
  hgvsp: ENSP00000390034.1:p.Pro925Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1240C>T
  hgvsp: ENSP00000396882.1:p.Pro414Ser
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2386Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

5-139917103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917103
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917103
    reference: chr 5
allele count: 1
allele frequency: 8.336112037345782e-6
allele num: 119960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.470C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2331C>T
  hgvsp: ENSP00000415887.1:p.Pro778Leu
  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.7157C>T
  hgvsp: ENSP00000354085.2:p.Pro2386Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2774C>T
  hgvsp: ENSP00000390034.1:p.Pro925Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*57G>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3176C>T
  hgvsp: ENSP00000393204.1:p.Pro1059Leu
  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.7157C>T
  hgvsp: ENSP00000432016.1:p.Pro2386Leu
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1241C>T
  hgvsp: ENSP00000396882.1:p.Pro414Leu
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1329C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.130C>T
  hgvsp: ENSP00000405345.1:p.Pro44Leu
  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.7157C>T
  hgvsp: ENSP00000297183.6:p.Pro2386Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2129C>T
  hgvsp: ENSP00000437687.1:p.Pro710Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2628C>T
  hgvsp: ENSP00000410959.1:p.Pro877Leu
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2386Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

5-139917104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917104
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917104
    reference: chr 5
allele count: 1
allele frequency: 8.337363058811759e-6
allele num: 119942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2130G>A
  hgvsp: ENST00000544120.1:c.2130G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2775G>A
  hgvsp: ENST00000433049.1:c.2775G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3177G>A
  hgvsp: ENST00000431508.1:c.3177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*56C>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2629G>A
  hgvsp: ENST00000435794.1:c.2629G>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.7158G>A
  hgvsp: ENST00000297183.6:c.7158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1242G>A
  hgvsp: ENST00000437495.1:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7158G>A
  hgvsp: ENST00000532219.1:c.7158G>A(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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.471G>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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1330G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7158G>A
  hgvsp: ENST00000360839.2:c.7158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.131G>A
  hgvsp: ENST00000421706.1:c.131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2332G>A
  hgvsp: ENST00000432301.1:c.2332G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41193
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2386Pro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

5-139917106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917106
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917106
    reference: chr 5
allele count: 9
allele frequency: 7.512520868113522e-5
allele num: 119800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.133C>T
  hgvsp: ENSP00000405345.1:p.Ala45Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2631C>T
  hgvsp: ENSP00000410959.1:p.Ala878Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*54G>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.473C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1244C>T
  hgvsp: ENSP00000396882.1:p.Ala415Val
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2334C>T
  hgvsp: ENSP00000415887.1:p.Ala779Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3179C>T
  hgvsp: ENSP00000393204.1:p.Ala1060Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2132C>T
  hgvsp: ENSP00000437687.1:p.Ala711Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2777C>T
  hgvsp: ENSP00000390034.1:p.Ala926Val
  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.7160C>T
  hgvsp: ENSP00000432016.1:p.Ala2387Val
  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.7160C>T
  hgvsp: ENSP00000354085.2:p.Ala2387Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1332C>T
  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.7160C>T
  hgvsp: ENSP00000297183.6:p.Ala2387Val
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2387Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-139917107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917107
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917107
    reference: chr 5
allele count: 3
allele frequency: 2.504299046696829e-5
allele num: 119794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1333G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*53C>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7161G>A
  hgvsp: ENST00000532219.1:c.7161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2632G>A
  hgvsp: ENST00000435794.1:c.2632G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.134G>A
  hgvsp: ENST00000421706.1:c.134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1245G>A
  hgvsp: ENST00000437495.1:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7161G>A
  hgvsp: ENST00000297183.6:c.7161G>A(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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.474G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2335G>A
  hgvsp: ENST00000432301.1:c.2335G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2133G>A
  hgvsp: ENST00000544120.1:c.2133G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2778G>A
  hgvsp: ENST00000433049.1:c.2778G>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.7161G>A
  hgvsp: ENST00000360839.2:c.7161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3180G>A
  hgvsp: ENST00000431508.1:c.3180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2387Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

5-139917109-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917109
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917109
    reference: chr 5
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7163G>T
  hgvsp: ENSP00000297183.6:p.Gly2388Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2135G>T
  hgvsp: ENSP00000437687.1:p.Gly712Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*51C>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.136G>T
  hgvsp: ENSP00000405345.1:p.Gly46Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2337G>T
  hgvsp: ENSP00000415887.1:p.Gly780Val
  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.7163G>T
  hgvsp: ENSP00000354085.2:p.Gly2388Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1335G>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7163G>T
  hgvsp: ENSP00000432016.1:p.Gly2388Val
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3182G>T
  hgvsp: ENSP00000393204.1:p.Gly1061Val
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.476G>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2634G>T
  hgvsp: ENSP00000410959.1:p.Gly879Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1247G>T
  hgvsp: ENSP00000396882.1:p.Gly416Val
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2780G>T
  hgvsp: ENSP00000390034.1:p.Gly927Val
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2388Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

5-139917112-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917112
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917112
    reference: chr 5
allele count: 1
allele frequency: 8.396164631996104e-6
allele num: 119102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2340C>G
  hgvsp: ENSP00000415887.1:p.Thr781Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1250C>G
  hgvsp: ENSP00000396882.1:p.Thr417Ser
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7166C>G
  hgvsp: ENSP00000432016.1:p.Thr2389Ser
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2637C>G
  hgvsp: ENSP00000410959.1:p.Thr880Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.139C>G
  hgvsp: ENSP00000405345.1:p.Thr47Ser
  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.7166C>G
  hgvsp: ENSP00000297183.6:p.Thr2389Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2138C>G
  hgvsp: ENSP00000437687.1:p.Thr713Ser
  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.7166C>G
  hgvsp: ENSP00000354085.2:p.Thr2389Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3185C>G
  hgvsp: ENSP00000393204.1:p.Thr1062Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*48G>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.479C>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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1338C>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2783C>G
  hgvsp: ENSP00000390034.1:p.Thr928Ser
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr2389Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

5-139917120-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917120
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917120
    reference: chr 5
allele count: 1
allele frequency: 8.464247020585048e-6
allele num: 118144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2146G>T
  hgvsp: ENSP00000437687.1:p.Val716Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2791G>T
  hgvsp: ENSP00000390034.1:p.Val931Phe
  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.7174G>T
  hgvsp: ENSP00000354085.2:p.Val2392Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2348G>T
  hgvsp: ENSP00000415887.1:p.Val784Phe
  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.7174G>T
  hgvsp: ENSP00000297183.6:p.Val2392Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2645G>T
  hgvsp: ENSP00000410959.1:p.Val883Phe
  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.7174G>T
  hgvsp: ENSP00000432016.1:p.Val2392Phe
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.147G>T
  hgvsp: ENSP00000405345.1:p.Val50Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3193G>T
  hgvsp: ENSP00000393204.1:p.Val1065Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*40C>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1258G>T
  hgvsp: ENSP00000396882.1:p.Val420Phe
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1346G>T
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.487G>T
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val2392Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

5-139917122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917122
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917122
    reference: chr 5
allele count: 1
allele frequency: 8.482915408367548e-6
allele num: 117884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1260C>T
  hgvsp: ENST00000437495.1:c.1260C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2148C>T
  hgvsp: ENST00000544120.1:c.2148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3195C>T
  hgvsp: ENST00000431508.1:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.149C>T
  hgvsp: ENST00000421706.1:c.149C>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.7176C>T
  hgvsp: ENST00000360839.2:c.7176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*38G>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2350C>T
  hgvsp: ENST00000432301.1:c.2350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2647C>T
  hgvsp: ENST00000435794.1:c.2647C>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.7176C>T
  hgvsp: ENST00000532219.1:c.7176C>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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.489C>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.7176C>T
  hgvsp: ENST00000297183.6:c.7176C>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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1348C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2793C>T
  hgvsp: ENST00000433049.1:c.2793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2392Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

5-139917123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917123
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917123
    reference: chr 5
allele count: 9
allele frequency: 7.646299191191464e-5
allele num: 117704
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.7177G>A
  hgvsp: ENSP00000354085.2:p.Ala2393Thr
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.490G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.150G>A
  hgvsp: ENSP00000405345.1:p.Ala51Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2794G>A
  hgvsp: ENSP00000390034.1:p.Ala932Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2351G>A
  hgvsp: ENSP00000415887.1:p.Ala785Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*37C>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1261G>A
  hgvsp: ENSP00000396882.1:p.Ala421Thr
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1349G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2648G>A
  hgvsp: ENSP00000410959.1:p.Ala884Thr
  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.7177G>A
  hgvsp: ENSP00000432016.1:p.Ala2393Thr
  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.7177G>A
  hgvsp: ENSP00000297183.6:p.Ala2393Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2149G>A
  hgvsp: ENSP00000437687.1:p.Ala717Thr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3196G>A
  hgvsp: ENSP00000393204.1:p.Ala1066Thr
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39500
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala2393Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-139917125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917125
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917125
    reference: chr 5
allele count: 1
allele frequency: 8.50065455040038e-6
allele num: 117638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2353T>C
  hgvsp: ENST00000432301.1:c.2353T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1263T>C
  hgvsp: ENST00000437495.1:c.1263T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.152T>C
  hgvsp: ENST00000421706.1:c.152T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2796T>C
  hgvsp: ENST00000433049.1:c.2796T>C(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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.492T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1351T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2650T>C
  hgvsp: ENST00000435794.1:c.2650T>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.7179T>C
  hgvsp: ENST00000297183.6:c.7179T>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.7179T>C
  hgvsp: ENST00000532219.1:c.7179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3198T>C
  hgvsp: ENST00000431508.1:c.3198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*35A>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7179T>C
  hgvsp: ENST00000360839.2:c.7179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2151T>C
  hgvsp: ENST00000544120.1:c.2151T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala2393Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-139917128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917128
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917128
    reference: chr 5
allele count: 1
allele frequency: 8.53344256139812e-6
allele num: 117186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7182C>T
  hgvsp: ENST00000360839.2:c.7182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2799C>T
  hgvsp: ENST00000433049.1:c.2799C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1266C>T
  hgvsp: ENST00000437495.1:c.1266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2653C>T
  hgvsp: ENST00000435794.1:c.2653C>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.7182C>T
  hgvsp: ENST00000532219.1:c.7182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2154C>T
  hgvsp: ENST00000544120.1:c.2154C>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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1354C>T
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.495C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2356C>T
  hgvsp: ENST00000432301.1:c.2356C>T(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.7182C>T
  hgvsp: ENST00000297183.6:c.7182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3201C>T
  hgvsp: ENST00000431508.1:c.3201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.155C>T
  hgvsp: ENST00000421706.1:c.155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/11281
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2394Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

5-139917129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917129
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917129
    reference: chr 5
allele count: 2
allele frequency: 1.711391018619934e-5
allele num: 116864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2357G>A
  hgvsp: ENSP00000415887.1:p.Val787Ile
  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.7183G>A
  hgvsp: ENSP00000432016.1:p.Val2395Ile
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2654G>A
  hgvsp: ENSP00000410959.1:p.Val886Ile
  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.7183G>A
  hgvsp: ENSP00000297183.6:p.Val2395Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1267G>A
  hgvsp: ENSP00000396882.1:p.Val423Ile
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2155G>A
  hgvsp: ENSP00000437687.1:p.Val719Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3202G>A
  hgvsp: ENSP00000393204.1:p.Val1068Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2800G>A
  hgvsp: ENSP00000390034.1:p.Val934Ile
  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.7183G>A
  hgvsp: ENSP00000354085.2:p.Val2395Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.156G>A
  hgvsp: ENSP00000405345.1:p.Val53Ile
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.496G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1355G>A
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2395Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ

5-139917130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917130
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917130
    reference: chr 5
allele count: 4
allele frequency: 3.422254923769271e-5
allele num: 116882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7184T>C
  hgvsp: ENSP00000354085.2:p.Val2395Ala
  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.7184T>C
  hgvsp: ENSP00000297183.6:p.Val2395Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3203T>C
  hgvsp: ENSP00000393204.1:p.Val1068Ala
  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.7184T>C
  hgvsp: ENSP00000432016.1:p.Val2395Ala
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1268T>C
  hgvsp: ENSP00000396882.1:p.Val423Ala
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.157T>C
  hgvsp: ENSP00000405345.1:p.Val53Ala
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.497T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2358T>C
  hgvsp: ENSP00000415887.1:p.Val787Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2655T>C
  hgvsp: ENSP00000410959.1:p.Val886Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2156T>C
  hgvsp: ENSP00000437687.1:p.Val719Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2801T>C
  hgvsp: ENSP00000390034.1:p.Val934Ala
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1356T>C
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2395Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

5-139917134-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917134
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917134
    reference: chr 5
allele count: 1
allele frequency: 8.582070338648495e-6
allele num: 116522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*26T>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2160A>G
  hgvsp: ENST00000544120.1:c.2160A>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.7188A>G
  hgvsp: ENST00000360839.2:c.7188A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2805A>G
  hgvsp: ENST00000433049.1:c.2805A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1272A>G
  hgvsp: ENST00000437495.1:c.1272A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3207A>G
  hgvsp: ENST00000431508.1:c.3207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2659A>G
  hgvsp: ENST00000435794.1:c.2659A>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.7188A>G
  hgvsp: ENST00000532219.1:c.7188A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2362A>G
  hgvsp: ENST00000432301.1:c.2362A>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.7188A>G
  hgvsp: ENST00000297183.6:c.7188A>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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.501A>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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1360A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.161A>G
  hgvsp: ENST00000421706.1:c.161A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2396Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/5-139917136-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917136
    reference: chr 5
allele count: 1
allele frequency: 8.594461728861921e-6
allele num: 116354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2661A>C
  hgvsp: ENSP00000410959.1:p.His888Pro
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2807A>C
  hgvsp: ENSP00000390034.1:p.His936Pro
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1274A>C
  hgvsp: ENSP00000396882.1:p.His425Pro
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.163A>C
  hgvsp: ENSP00000405345.1:p.His55Pro
  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.7190A>C
  hgvsp: ENSP00000432016.1:p.His2397Pro
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2364A>C
  hgvsp: ENSP00000415887.1:p.His789Pro
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2162A>C
  hgvsp: ENSP00000437687.1:p.His721Pro
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3209A>C
  hgvsp: ENSP00000393204.1:p.His1070Pro
  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.7190A>C
  hgvsp: ENSP00000297183.6:p.His2397Pro
  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.7190A>C
  hgvsp: ENSP00000354085.2:p.His2397Pro
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1362A>C
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.503A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*24T>G
  variant of: http://identifiers.org/hgnc/11281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His2397Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-139917143-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917143
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917143
    reference: chr 5
allele count: 1
allele frequency: 8.652465087303372e-6
allele num: 115574
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7197A>C
  hgvsp: ENST00000532219.1:c.7197A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2169A>C
  hgvsp: ENST00000544120.1:c.2169A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3216A>C
  hgvsp: ENST00000431508.1:c.3216A>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.7197A>C
  hgvsp: ENST00000360839.2:c.7197A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1281A>C
  hgvsp: ENST00000437495.1:c.1281A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2814A>C
  hgvsp: ENST00000433049.1:c.2814A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.170A>C
  hgvsp: ENST00000421706.1:c.170A>C(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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.510A>C
  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.7197A>C
  hgvsp: ENST00000297183.6:c.7197A>C(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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1369A>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.*17T>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2371A>C
  hgvsp: ENST00000432301.1:c.2371A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2668A>C
  hgvsp: ENST00000435794.1:c.2668A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2399Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

5-139917160-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917160
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917160
    reference: chr 5
allele count: 1
allele frequency: 8.80312687066446e-6
allele num: 113596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2388T>G
  hgvsp: ENSP00000415887.1:p.Val797Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.187T>G
  hgvsp: ENSP00000405345.1:p.Val63Gly
  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.7214T>G
  hgvsp: ENSP00000432016.1:p.Val2405Gly
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1386T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3233T>G
  hgvsp: ENSP00000393204.1:p.Val1078Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2685T>G
  hgvsp: ENSP00000410959.1:p.Val896Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.226A>C
  hgvsp: ENSP00000473378.1:p.Ter76CysextTer49
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1298T>G
  hgvsp: ENSP00000396882.1:p.Val433Gly
  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.7214T>G
  hgvsp: ENSP00000354085.2:p.Val2405Gly
  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.7214T>G
  hgvsp: ENSP00000297183.6:p.Val2405Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2831T>G
  hgvsp: ENSP00000390034.1:p.Val944Gly
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2186T>G
  hgvsp: ENSP00000437687.1:p.Val729Gly
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.527T>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter76CysextTer49
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

5-139917163-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917163
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917163
    reference: chr 5
allele count: 28
allele frequency: 2.472668185591409e-4
allele num: 113238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2688A>G
  hgvsp: ENSP00000410959.1:p.Asn897Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1389A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.190A>G
  hgvsp: ENSP00000405345.1:p.Asn64Ser
  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.7217A>G
  hgvsp: ENSP00000354085.2:p.Asn2406Ser
  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.7217A>G
  hgvsp: ENSP00000432016.1:p.Asn2406Ser
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2834A>G
  hgvsp: ENSP00000390034.1:p.Asn945Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2391A>G
  hgvsp: ENSP00000415887.1:p.Asn798Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1301A>G
  hgvsp: ENSP00000396882.1:p.Asn434Ser
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2189A>G
  hgvsp: ENSP00000437687.1:p.Asn730Ser
  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.7217A>G
  hgvsp: ENSP00000297183.6:p.Asn2406Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3236A>G
  hgvsp: ENSP00000393204.1:p.Asn1079Ser
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.530A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.223T>C
  hgvsp: ENST00000602657.1:c.223T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn2406Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

5-139917164-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917164
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917164
    reference: chr 5
allele count: 1
allele frequency: 8.837357276679982e-6
allele num: 113156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2835T>G
  hgvsp: ENSP00000390034.1:p.Asn945Lys
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.222A>C
  hgvsp: ENSP00000473378.1:p.His75Pro
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7218T>G
  hgvsp: ENSP00000297183.6:p.Asn2406Lys
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.531T>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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1390T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1302T>G
  hgvsp: ENSP00000396882.1:p.Asn434Lys
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.191T>G
  hgvsp: ENSP00000405345.1:p.Asn64Lys
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2689T>G
  hgvsp: ENSP00000410959.1:p.Asn897Lys
  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.7218T>G
  hgvsp: ENSP00000354085.2:p.Asn2406Lys
  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.7218T>G
  hgvsp: ENSP00000432016.1:p.Asn2406Lys
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2392T>G
  hgvsp: ENSP00000415887.1:p.Asn798Lys
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2190T>G
  hgvsp: ENSP00000437687.1:p.Asn730Lys
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3237T>G
  hgvsp: ENSP00000393204.1:p.Asn1079Lys
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn2406Lys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

5-139917180-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917180
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917180
    reference: chr 5
allele count: 3
allele frequency: 2.686438856651623e-5
allele num: 111672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+6A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+6A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+6A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+6A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+6A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+6A>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.7228+6A>G
  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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+6A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+6A>G
  variant of: http://identifiers.org/hgnc/33530
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.7228+6A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+6A>G
  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.7228+6A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.206T>C
  hgvsp: ENST00000602657.1:c.206T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11281
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.7228+6A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

5-139917181-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917181
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917181
    reference: chr 5
allele count: 1
allele frequency: 8.962500896250089e-6
allele num: 111576
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.7228+7T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+7T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+7T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+7T>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.7228+7T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+7T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+7T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+7T>A
  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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+7T>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.205A>T
  hgvsp: ENSP00000473378.1:p.Gln69His
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+7T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+7T>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.7228+7T>A
  variant of: http://identifiers.org/hgnc/33530
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln69His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

5-139917187-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917187
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917187
    reference: chr 5
allele count: 1
allele frequency: 9.008522061870529e-6
allele num: 111006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+13T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.199A>G
  hgvsp: ENST00000602657.1:c.199A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+13T>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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+13T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+13T>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.7228+13T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+13T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+13T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+13T>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.7228+13T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+13T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7228+13T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+13T>C
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala67Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/5-139917191-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917191
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917191
    reference: chr 5
allele count: 19
allele frequency: 1.722231286597415e-4
allele num: 110322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+17C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+17C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+17C>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+17C>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.7228+17C>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+17C>A
  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.7228+17C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+17C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.195G>T
  hgvsp: ENSP00000473378.1:p.Arg66Ile
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+17C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+17C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+17C>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.7228+17C>A
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg66Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

5-139917195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917195
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917195
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 109480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+21C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+21C>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.7228+21C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+21C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.191G>A
  hgvsp: ENSP00000473378.1:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+21C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+21C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+21C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+21C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+21C>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.7228+21C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+21C>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.7228+21C>T
  variant of: http://identifiers.org/hgnc/33530
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu65Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

5-139917205-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917205
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917205
    reference: chr 5
allele count: 1
allele frequency: 9.335847788337658e-6
allele num: 107114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.181T>C
  hgvsp: ENST00000602657.1:c.181T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7228+31A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+31A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+31A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+31A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+31A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+31A>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.7228+31A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+31A>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.7228+31A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+31A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+31A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+31A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr61Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-139917224-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917224
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917224
    reference: chr 5
allele count: 1
allele frequency: 1.062180018269496e-5
allele num: 94146
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.7228+50G>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+50G>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.7228+50G>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.7228+50G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.162C>G
  hgvsp: ENSP00000473378.1:p.Pro55Arg
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+50G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+50G>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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+50G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+50G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+50G>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+50G>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+50G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+50G>C
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21932
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro55Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-139917227-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917227
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917227
    reference: chr 5
allele count: 1
allele frequency: 1.097477995566189e-5
allele num: 91118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+53T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+53T>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.7228+53T>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.7228+53T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.159A>C
  hgvsp: ENSP00000473378.1:p.Lys54Thr
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+53T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+53T>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.7228+53T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+53T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+53T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+53T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+53T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+53T>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys54Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

5-139917238-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917238
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917238
    reference: chr 5
allele count: 33
allele frequency: 4.162882228277323e-4
allele num: 79272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+64A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+64A>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.7228+64A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+64A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+64A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+64A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.148T>C
  hgvsp: ENST00000602657.1:c.148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+64A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+64A>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.7228+64A>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.7228+64A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+64A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+64A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10458
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18664
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser50Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

5-139917247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917247
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917247
    reference: chr 5
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
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.7228+73C>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.7228+73C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+73C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+73C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+73C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+73C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+73C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+73C>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.7228+73C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-1G>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+73C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+73C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+73C>T
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.140-1G>A
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-139917251-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917251
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917250
    reference: chr 5
allele count: 3
allele frequency: 4.946740098275237e-5
allele num: 60646
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.7228+83delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+83delA
  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.7228+83delA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+83delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-6delT
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+83delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+83delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+83delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+83delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+83delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+83delA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+83delA
  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.7228+83delA
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18339
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20304
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.140-6delT
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GA
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

5-139917251-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917251
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917252
    reference: chr 5
allele count: 4
allele frequency: 6.595653464366982e-5
allele num: 60646
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+83dupA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+83dupA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-6dupT
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+83dupA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+83dupA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+83dupA
  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.7228+83dupA
  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.7228+83dupA
  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.7228+83dupA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+83dupA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+83dupA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+83dupA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+83dupA
  variant of: http://identifiers.org/hgnc/24714
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20304
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.140-6dupT
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-139917262-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917261
    reference: chr 5
allele count: 8
allele frequency: 1.848001848001848e-4
allele num: 43290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+96delA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+96delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-17delT
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+96delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+96delA
  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.7228+96delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+96delA
  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.7228+96delA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+96delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+96delA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+96delA
  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.7228+96delA
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+96delA
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20134
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16329
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: CA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-139917279-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917279
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917279
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 24708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+105C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+105C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+105C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-33G>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7228+105C>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+105C>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.7228+105C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+105C>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+105C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+105C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+105C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+105C>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.7228+105C>A
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22495
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-139917292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917292
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917292
    reference: chr 5
allele count: 3
allele frequency: 1.673173452314557e-4
allele num: 17930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+118T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-46A>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+118T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+118T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+118T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+118T>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.7228+118T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+118T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+118T>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.7228+118T>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.7228+118T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+118T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+118T>C
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23175
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21713
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

5-139917295-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917295
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917295
    reference: chr 5
allele count: 1
allele frequency: 5.755064456721915e-5
allele num: 17376
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.7228+121A>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.7228+121A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.201+121A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2402+121A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1400+121A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.541+121A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2200+121A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3247+121A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2845+121A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-49T>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7228+121A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1312+121A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2699+121A>G
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-139917624-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917624
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917624
    reference: chr 5
allele count: 2
allele frequency: 1.763699536147022e-5
allele num: 113398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2403-47T>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.7229-47T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1401-47T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2201-47T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-378A>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7229-47T>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.7229-47T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2846-47T>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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.542-47T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1313-47T>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3248-47T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2700-47T>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.202-47T>C
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11857
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-139917628-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917628
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917628
    reference: chr 5
allele count: 5
allele frequency: 4.408238115390041e-5
allele num: 113424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1401-43A>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.7229-43A>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2201-43A>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2403-43A>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-382T>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.202-43A>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.7229-43A>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2700-43A>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.7229-43A>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1313-43A>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3248-43A>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2846-43A>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.542-43A>T
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13788
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

5-139917640-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917640
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917640
    reference: chr 5
allele count: 2
allele frequency: 1.746969008769784e-5
allele num: 114484
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.7229-31T>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3248-31T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2201-31T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2700-31T>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.7229-31T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2403-31T>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.7229-31T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1313-31T>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1401-31T>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.202-31T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.542-31T>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-394A>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2846-31T>A
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

5-139917640-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917640
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917640
    reference: chr 5
allele count: 11
allele frequency: 9.608329548233815e-5
allele num: 114484
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.7229-31T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2700-31T>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.7229-31T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1401-31T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.542-31T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.202-31T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2201-31T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-394A>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7229-31T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2846-31T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3248-31T>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1313-31T>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2403-31T>G
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12029
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/5-139917655-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917655
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917655
    reference: chr 5
allele count: 1
allele frequency: 8.545547769612032e-6
allele num: 117020
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.7229-16C>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3248-16C>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.7229-16C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2403-16C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1313-16C>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-409G>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7229-16C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.202-16C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2846-16C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.542-16C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2700-16C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2201-16C>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1401-16C>A
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20174
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/5-139917660-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917660
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917660
    reference: chr 5
allele count: 1
allele frequency: 8.444947387977773e-6
allele num: 118414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1313-11A>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3248-11A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2846-11A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2201-11A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1401-11A>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.202-11A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2700-11A>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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.542-11A>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.7229-11A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-414T>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7229-11A>C
  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.7229-11A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2403-11A>C
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

5-139917660-ATTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917660
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917657
    reference: chr 5
allele count: 1
allele frequency: 8.444947387977773e-6
allele num: 118414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2403-8_2403-6delCTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2700-8_2700-6delCTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1313-8_1313-6delCTT
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3248-8_3248-6delCTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.202-8_202-6delCTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-417_140-415delGAA
  variant of: http://identifiers.org/hgnc/11281
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.7229-8_7229-6delCTT
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2201-8_2201-6delCTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.542-8_542-6delCTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1401-8_1401-6delCTT
  variant of: http://identifiers.org/hgnc/33530
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.7229-8_7229-6delCTT
  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.7229-8_7229-6delCTT
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2846-8_2846-6delCTT
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.7229-8_7229-6delCTT
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: ATTC
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-139917663-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917663
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917663
    reference: chr 5
allele count: 1
allele frequency: 8.39433214693439e-6
allele num: 119128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2846-8C>G
  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.7229-8C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2403-8C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2700-8C>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.7229-8C>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2201-8C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.202-8C>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.7229-8C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-417G>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1401-8C>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1313-8C>G
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.542-8C>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3248-8C>G
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.7229-8C>G
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

5-139917686-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917686
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917686
    reference: chr 5
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2418G>C
  hgvsp: ENSP00000415887.1:p.Trp807Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.217G>C
  hgvsp: ENSP00000405345.1:p.Trp73Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3263G>C
  hgvsp: ENSP00000393204.1:p.Trp1088Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2216G>C
  hgvsp: ENSP00000437687.1:p.Trp739Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2715G>C
  hgvsp: ENSP00000410959.1:p.Trp906Ser
  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.7244G>C
  hgvsp: ENSP00000432016.1:p.Trp2415Ser
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2861G>C
  hgvsp: ENSP00000390034.1:p.Trp954Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1416G>C
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.557G>C
  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.7244G>C
  hgvsp: ENSP00000354085.2:p.Trp2415Ser
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1328G>C
  hgvsp: ENSP00000396882.1:p.Trp443Ser
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-440C>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7244G>C
  hgvsp: ENSP00000297183.6:p.Trp2415Ser
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp2415Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

5-139917693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917693
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917693
    reference: chr 5
allele count: 5
allele frequency: 4.124459695779853e-5
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2425A>G
  hgvsp: ENST00000432301.1:c.2425A>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.7251A>G
  hgvsp: ENST00000360839.2:c.7251A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1335A>G
  hgvsp: ENST00000437495.1:c.1335A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7251A>G
  hgvsp: ENST00000532219.1:c.7251A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2722A>G
  hgvsp: ENST00000435794.1:c.2722A>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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.564A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2223A>G
  hgvsp: ENST00000544120.1:c.2223A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.224A>G
  hgvsp: ENST00000421706.1:c.224A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-447T>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1423A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7251A>G
  hgvsp: ENST00000297183.6:c.7251A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2868A>G
  hgvsp: ENST00000433049.1:c.2868A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3270A>G
  hgvsp: ENST00000431508.1:c.3270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln2417Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

5-139917702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917702
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917702
    reference: chr 5
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2434G>A
  hgvsp: ENSP00000415887.1:p.Met812Ile
  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.7260G>A
  hgvsp: ENSP00000297183.6:p.Met2420Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2731G>A
  hgvsp: ENSP00000410959.1:p.Met911Ile
  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.7260G>A
  hgvsp: ENSP00000354085.2:p.Met2420Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1344G>A
  hgvsp: ENSP00000396882.1:p.Met448Ile
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.573G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.233G>A
  hgvsp: ENSP00000405345.1:p.Met78Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2877G>A
  hgvsp: ENSP00000390034.1:p.Met959Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-456C>T
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7260G>A
  hgvsp: ENSP00000432016.1:p.Met2420Ile
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2232G>A
  hgvsp: ENSP00000437687.1:p.Met744Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3279G>A
  hgvsp: ENSP00000393204.1:p.Met1093Ile
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1432G>A
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met2420Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

5-139917720-TCAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917720
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917717
    reference: chr 5
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1454_1456delCAA
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7282_7284delCAA
  hgvsp: ENSP00000432016.1:p.Gln2428del
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2753_2755delCAA
  hgvsp: ENSP00000410959.1:p.Gln919del
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3301_3303delCAA
  hgvsp: ENSP00000393204.1:p.Gln1101del
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7282_7284delCAA
  hgvsp: ENSP00000354085.2:p.Gln2428del
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-477_140-475delTTG
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000297183
  ensembl transcript: ENST00000297183
  gene symbol: ANKHD1
  hgvsc: ENST00000297183.6:c.7282_7284delCAA
  hgvsp: ENSP00000297183.6:p.Gln2428del
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.255_257delCAA
  hgvsp: ENSP00000405345.1:p.Gln86del
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2456_2458delCAA
  hgvsp: ENSP00000415887.1:p.Gln820del
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2254_2256delCAA
  hgvsp: ENSP00000437687.1:p.Gln752del
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1366_1368delCAA
  hgvsp: ENSP00000396882.1:p.Gln456del
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2899_2901delCAA
  hgvsp: ENSP00000390034.1:p.Gln967del
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.595_597delCAA
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln2428del
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: TCAA
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/5-139917738-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917738
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917738
    reference: chr 5
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2767A>C
  hgvsp: ENST00000435794.1:c.2767A>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.7296A>C
  hgvsp: ENST00000532219.1:c.7296A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7296A>C
  hgvsp: ENST00000360839.2:c.7296A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-492T>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2470A>C
  hgvsp: ENST00000432301.1:c.2470A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1380A>C
  hgvsp: ENST00000437495.1:c.1380A>C(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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1468A>C
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3315A>C
  hgvsp: ENST00000431508.1:c.3315A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2913A>C
  hgvsp: ENST00000433049.1:c.2913A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.269A>C
  hgvsp: ENST00000421706.1:c.269A>C(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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.609A>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2268A>C
  hgvsp: ENST00000544120.1:c.2268A>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.7296A>C
  hgvsp: ENST00000297183.6:c.7296A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro2432Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-139917747-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917747
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917747
    reference: chr 5
allele count: 9
allele frequency: 7.41399762752076e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.278C>G
  hgvsp: ENSP00000405345.1:p.Phe93Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1389C>G
  hgvsp: ENSP00000396882.1:p.Phe463Leu
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7305C>G
  hgvsp: ENSP00000432016.1:p.Phe2435Leu
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2776C>G
  hgvsp: ENSP00000410959.1:p.Phe926Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2277C>G
  hgvsp: ENSP00000437687.1:p.Phe759Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-501G>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3324C>G
  hgvsp: ENSP00000393204.1:p.Phe1108Leu
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.618C>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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1477C>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2922C>G
  hgvsp: ENSP00000390034.1:p.Phe974Leu
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2479C>G
  hgvsp: ENSP00000415887.1:p.Phe827Leu
  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.7305C>G
  hgvsp: ENSP00000354085.2:p.Phe2435Leu
  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.7305C>G
  hgvsp: ENSP00000297183.6:p.Phe2435Leu
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe2435Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-139917749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917749
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917749
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1479C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.280C>T
  hgvsp: ENSP00000405345.1:p.Ser94Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2481C>T
  hgvsp: ENSP00000415887.1:p.Ser828Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2279C>T
  hgvsp: ENSP00000437687.1:p.Ser760Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-503G>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000354085
  ensembl transcript: ENST00000360839
  gene symbol: ANKHD1
  hgvsc: ENST00000360839.2:c.7307C>T
  hgvsp: ENSP00000354085.2:p.Ser2436Phe
  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.7307C>T
  hgvsp: ENSP00000297183.6:p.Ser2436Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2778C>T
  hgvsp: ENSP00000410959.1:p.Ser927Phe
  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.7307C>T
  hgvsp: ENSP00000432016.1:p.Ser2436Phe
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3326C>T
  hgvsp: ENSP00000393204.1:p.Ser1109Phe
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2924C>T
  hgvsp: ENSP00000390034.1:p.Ser975Phe
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.620C>T
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1391C>T
  hgvsp: ENSP00000396882.1:p.Ser464Phe
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser2436Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

5-139917752-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917752
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917752
    reference: chr 5
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2484A>G
  hgvsp: ENSP00000415887.1:p.Gln829Arg
  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.7310A>G
  hgvsp: ENSP00000354085.2:p.Gln2437Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.283A>G
  hgvsp: ENSP00000405345.1:p.Gln95Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1482A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1394A>G
  hgvsp: ENSP00000396882.1:p.Gln465Arg
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.623A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2781A>G
  hgvsp: ENSP00000410959.1:p.Gln928Arg
  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.7310A>G
  hgvsp: ENSP00000297183.6:p.Gln2437Arg
  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.7310A>G
  hgvsp: ENSP00000432016.1:p.Gln2437Arg
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3329A>G
  hgvsp: ENSP00000393204.1:p.Gln1110Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-506T>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2282A>G
  hgvsp: ENSP00000437687.1:p.Gln761Arg
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2927A>G
  hgvsp: ENSP00000390034.1:p.Gln976Arg
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln2437Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

5-139917754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917754
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917754
    reference: chr 5
allele count: 4
allele frequency: 3.295001482750667e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1396C>T
  hgvsp: ENSP00000396882.1:p.His466Tyr
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1484C>T
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2929C>T
  hgvsp: ENSP00000390034.1:p.His977Tyr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.285C>T
  hgvsp: ENSP00000405345.1:p.His96Tyr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2783C>T
  hgvsp: ENSP00000410959.1:p.His929Tyr
  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.7312C>T
  hgvsp: ENSP00000354085.2:p.His2438Tyr
  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.7312C>T
  hgvsp: ENSP00000297183.6:p.His2438Tyr
  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.7312C>T
  hgvsp: ENSP00000432016.1:p.His2438Tyr
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3331C>T
  hgvsp: ENSP00000393204.1:p.His1111Tyr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2486C>T
  hgvsp: ENSP00000415887.1:p.His830Tyr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2284C>T
  hgvsp: ENSP00000437687.1:p.His762Tyr
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-508G>A
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131503
  ensembl transcript: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.625C>T
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His2438Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

5-139917759-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917759
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917759
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-513C>G
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.290G>C
  hgvsp: ENSP00000405345.1:p.Gln97His
  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.7317G>C
  hgvsp: ENSP00000354085.2:p.Gln2439His
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2788G>C
  hgvsp: ENSP00000410959.1:p.Gln930His
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2934G>C
  hgvsp: ENSP00000390034.1:p.Gln978His
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2491G>C
  hgvsp: ENSP00000415887.1:p.Gln831His
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2289G>C
  hgvsp: ENSP00000437687.1:p.Gln763His
  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.7317G>C
  hgvsp: ENSP00000297183.6:p.Gln2439His
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3336G>C
  hgvsp: ENSP00000393204.1:p.Gln1112His
  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.7317G>C
  hgvsp: ENSP00000432016.1:p.Gln2439His
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1401G>C
  hgvsp: ENSP00000396882.1:p.Gln467His
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.630G>C
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1489G>C
  variant of: http://identifiers.org/hgnc/33530
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln2439His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-139917763-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917763
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917763
    reference: chr 5
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1493A>G
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2293A>G
  hgvsp: ENSP00000437687.1:p.Met765Val
  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.7321A>G
  hgvsp: ENSP00000354085.2:p.Met2441Val
  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.7321A>G
  hgvsp: ENSP00000297183.6:p.Met2441Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2495A>G
  hgvsp: ENSP00000415887.1:p.Met833Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3340A>G
  hgvsp: ENSP00000393204.1:p.Met1114Val
  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.7321A>G
  hgvsp: ENSP00000432016.1:p.Met2441Val
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2938A>G
  hgvsp: ENSP00000390034.1:p.Met980Val
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.294A>G
  hgvsp: ENSP00000405345.1:p.Met99Val
  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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.634A>G
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-517T>C
  variant of: http://identifiers.org/hgnc/11281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1405A>G
  hgvsp: ENSP00000396882.1:p.Met469Val
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2792A>G
  hgvsp: ENSP00000410959.1:p.Met932Val
  variant of: http://identifiers.org/hgnc/24714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met2441Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

5-139917768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 139917768
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 139917768
    reference: chr 5
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000432016
  ensembl transcript: ENST00000532219
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000532219.1:c.7326G>A
  hgvsp: ENST00000532219.1:c.7326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000393204
  ensembl transcript: ENST00000431508
  gene symbol: ANKHD1
  hgvsc: ENST00000431508.1:c.3345G>A
  hgvsp: ENST00000431508.1:c.3345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000254996
  ensembl protein: ENSP00000396882
  ensembl transcript: ENST00000437495
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000437495.1:c.1410G>A
  hgvsp: ENST00000437495.1:c.1410G>A(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: ENST00000495578
  gene symbol: ANKHD1
  hgvsc: ENST00000495578.1:n.639G>A
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000390034
  ensembl transcript: ENST00000433049
  gene symbol: ANKHD1
  hgvsc: ENST00000433049.1:c.2943G>A
  hgvsp: ENST00000433049.1:c.2943G>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.7326G>A
  hgvsp: ENST00000360839.2:c.7326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000405345
  ensembl transcript: ENST00000421706
  gene symbol: ANKHD1
  hgvsc: ENST00000421706.1:c.299G>A
  hgvsp: ENST00000421706.1:c.299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000415887
  ensembl transcript: ENST00000432301
  gene symbol: ANKHD1
  hgvsc: ENST00000432301.1:c.2500G>A
  hgvsp: ENST00000432301.1:c.2500G>A(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: ENSG00000254996
  ensembl transcript: ENST00000474060
  gene symbol: ANKHD1-EIF4EBP3
  hgvsc: ENST00000474060.1:n.1498G>A
  variant of: http://identifiers.org/hgnc/33530
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000437687
  ensembl transcript: ENST00000544120
  gene symbol: ANKHD1
  hgvsc: ENST00000544120.1:c.2298G>A
  hgvsp: ENST00000544120.1:c.2298G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131503
  ensembl protein: ENSP00000410959
  ensembl transcript: ENST00000435794
  gene symbol: ANKHD1
  hgvsc: ENST00000435794.1:c.2797G>A
  hgvsp: ENST00000435794.1:c.2797G>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.7326G>A
  hgvsp: ENST00000297183.6:c.7326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24714
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213523
  ensembl protein: ENSP00000473378
  ensembl transcript: ENST00000602657
  gene symbol: SRA1
  hgvsc: ENST00000602657.1:c.140-522C>T
  variant of: http://identifiers.org/hgnc/11281
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu2442Glu
num of homozygotes: 0
population: South Asian
reference allele: G

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4007
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.097e0

QD
type: SiteQuality
SIO_000300: 1.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 1.43648e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14468
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2652
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 667
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

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

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

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

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

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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.04e-1

FS
type: SiteQuality
SIO_000300: 4.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.65e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.745e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.437237e6

QD
type: SiteQuality
SIO_000300: 1.24e1

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

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 44
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 54627
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 665
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 1.437245e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.778e1

VQSLOD
type: SiteQuality
SIO_000300: -6.095e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 105
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4010
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

VQSLOD
type: SiteQuality
SIO_000300: -2.642e0

DP
type: SiteQuality
SIO_000300: 1.437276e6

FS
type: SiteQuality
SIO_000300: 1.378e0

QD
type: SiteQuality
SIO_000300: 7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

GenotypeDepth
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14477
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3990
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 444
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 220
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54313
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 16414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -4.258e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.64e-1

DP
type: SiteQuality
SIO_000300: 1.434696e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.882e1

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 444
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 54321
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 658
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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SIO_000300: 1.433039e6

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

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

Other
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East Asian
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allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

Latino
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BaseQRankSum
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SIO_000300: -4.976e0

FS
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SIO_000300: 4.08e-1

ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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SIO_000300: 1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
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Other
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allele count: 0
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQ
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SIO_000300: 5.956e1

VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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SIO_000300: 6.31e-1

BaseQRankSum
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DP
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SIO_000300: 1.430886e6

MQRankSum
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SIO_000300: -9.66e-1

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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GenotypeDepth
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variant carriers: 41

GenotypeDepth
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variant carriers: 9

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509479531457553e-5
allele num: 66248
num of homozygotes: 0

East Asian
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Other
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South Asian
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African
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allele count: 121
allele frequency: 1.165254237288136e-2
allele num: 10384
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Latino
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allele num: 11574
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
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GenotypeDepth
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variant carriers: 0

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

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele num: 15594
num of homozygotes: 0

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

BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 5.809450038729666e-4
allele num: 15492
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 6.450780544445878e-5
allele num: 15502
num of homozygotes: 0

African
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num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.021513173797438e-5
allele num: 66192
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66156
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

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

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

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

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

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

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 7.114399544678429e-5
allele num: 14056
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65654
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East Asian
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allele frequency: 9.267840593141798e-4
allele num: 8632
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African
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Other
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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MQ
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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BaseQRankSum
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SIO_000300: -1.327e0

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

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

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

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

South 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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.526204938799182e-5
allele num: 65522
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Other
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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SIO_000300: 1.0499e1

MQ
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: -2.2e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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allele frequency: 1.528023959415684e-5
allele num: 65444
num of homozygotes: 0

East Asian
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African
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allele num: 10324
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Latino
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Other
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European (Finnish)
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South Asian
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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DP
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 65456
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East Asian
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European (Finnish)
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Other
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Latino
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African
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South Asian
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ClippingRankSum
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MQ
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QD
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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Other
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African
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South Asian
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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DP
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Latino
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South Asian
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African
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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QD
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DP
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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DP
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FS
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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QD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.55850632753569e-5
allele num: 64164
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: 8.169999999999999e-1

DP
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.9e-3

ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.052631578947368e-4
allele num: 9500
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VQSLOD
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SIO_000300: -7.272e-1

ClippingRankSum
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BaseQRankSum
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FS
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SIO_000300: 4.221e0

MQRankSum
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MQ
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ReadPosRankSum
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QD
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SIO_000300: 9.52e0

InbreedingCoeff
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SIO_000300: -3.7e-3

DP
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SIO_000300: 1.336484e6

GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63682
num of homozygotes: 0

Other
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African
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allele count: 19
allele frequency: 1.866038106462385e-3
allele num: 10182
num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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QD
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 63224
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

South Asian
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Other
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QD
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SIO_000300: 1.519e1

MQRankSum
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SIO_000300: 9.01e-1

ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: -4.3e-3

FS
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BaseQRankSum
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SIO_000300: -1.307e0

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.615978798358166e-5
allele num: 61882
num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

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

African
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East Asian
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European (Non-Finnish)
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allele num: 54264
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Latino
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Other
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South Asian
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.498688647433496e-3
allele num: 5338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 5.265236277477951e-4
allele num: 45582
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.249063202598052e-4
allele num: 8006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 3.23e0

DP
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SIO_000300: 8.50733e5

VQSLOD
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SIO_000300: 3.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
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SIO_000300: 1.654e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.640752086194148e-5
allele num: 37868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
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SIO_000300: 1.41e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
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SIO_000300: -1.43e-2

FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 7.09706e5

ReadPosRankSum
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SIO_000300: 3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

VQSLOD
type: SiteQuality
SIO_000300: -8.138e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5814
bin: 6.25e1
variant carriers: 0

African
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allele count: 3
allele frequency: 4.659832246039142e-4
allele num: 6438
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4502
num of homozygotes: 0

Latino
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: 488
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34610
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
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SIO_000300: 1.139e1

DP
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SIO_000300: 6.62368e5

BaseQRankSum
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SIO_000300: -4.46e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 1.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

Latino
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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
allele num: 4502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.155735336607917e-4
allele num: 34610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

DP
type: SiteQuality
SIO_000300: 6.62368e5

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
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SIO_000300: 1.71e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 149
bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 3.11332503113325e-4
allele num: 3212
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 2.853183337409309e-4
allele num: 24534
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 7.12e-2

BaseQRankSum
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VQSLOD
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QD
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FS
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MQRankSum
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SIO_000300: 3.61e-1

ClippingRankSum
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SIO_000300: 2.3e-2

MQ
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SIO_000300: 5.959e1

DP
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SIO_000300: 5.63304e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13882
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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East Asian
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Other
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allele frequency: 0.0e0
allele num: 250
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
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VQSLOD
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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allele frequency: 4.10958904109589e-3
allele num: 730
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Other
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

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

Other
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African
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allele count: 1
allele frequency: 4.212299915754001e-4
allele num: 2374
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VQSLOD
type: SiteQuality
SIO_000300: -6.286e-1

BaseQRankSum
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MQ
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MQRankSum
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -5.58e-2

DP
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SIO_000300: 3.77659e5

ReadPosRankSum
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SIO_000300: -5.78e-1

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

Other
type: Population
allele count: 1
allele frequency: 1.193317422434368e-3
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African
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.555548642006035e-5
allele num: 64286
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InbreedingCoeff
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SIO_000300: 0.0e0

DP
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FS
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MQRankSum
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 64294
num of homozygotes: 0

South Asian
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -3.11e-1

MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 3.393e0

DP
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QD
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.08908933646361e-5
allele num: 64744
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 2.34e-1

FS
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SIO_000300: 3.955e0

QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 5.15e-1

MQ
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SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.877147e6

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 64744
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 7.85751702462022e-4
allele num: 11454
num of homozygotes: 0

Other
type: Population
allele count: 1
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MQ
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SIO_000300: 5.968e1

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 65492
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Latino
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European (Finnish)
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African
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Other
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

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

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

Latino
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allele num: 11528
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

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

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

Latino
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African
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South Asian
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Other
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FS
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10400
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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FS
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SIO_000300: 1.102e0

QD
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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SIO_000300: 5.931e1

ReadPosRankSum
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SIO_000300: 1.65e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
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allele num: 66724
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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East Asian
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Other
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European (Finnish)
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Latino
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African
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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QD
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GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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Latino
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Other
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African
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European (Finnish)
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South Asian
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DP
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FS
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4456
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15180
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6501
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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