14-31819080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819080
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819080
    reference: chr 14
allele count: 1
allele frequency: 9.024944947835819e-6
allele num: 110804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2623G>A
  hgvsp: ENSP00000437968.2:p.Ala875Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1744G>A
  hgvsp: ENSP00000408681.1:p.Ala582Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1506G>A
  hgvsp: ENSP00000439979.2:p.Ala503Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2719G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2605G>A
  hgvsp: ENSP00000374611.3:p.Ala869Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2623G>A
  hgvsp: ENSP00000384646.3:p.Ala875Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1550G>A
  hgvsp: ENSP00000450296.1:p.Ala518Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2605G>A
  hgvsp: ENSP00000405407.1:p.Ala869Thr
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala875Thr
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

14-31819094-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819094
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819094
    reference: chr 14
allele count: 1
allele frequency: 9.301460329271696e-6
allele num: 107510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1730C>G
  hgvsp: ENSP00000408681.1:p.Pro577Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1536C>G
  hgvsp: ENSP00000450296.1:p.Pro513Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1492C>G
  hgvsp: ENSP00000439979.2:p.Pro498Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2609C>G
  hgvsp: ENSP00000384646.3:p.Pro870Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2609C>G
  hgvsp: ENSP00000437968.2:p.Pro870Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2591C>G
  hgvsp: ENSP00000374611.3:p.Pro864Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2591C>G
  hgvsp: ENSP00000405407.1:p.Pro864Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2705C>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro870Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-31819097-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819097
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819097
    reference: chr 14
allele count: 1
allele frequency: 9.402207638353486e-6
allele num: 106358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2588A>G
  hgvsp: ENSP00000405407.1:p.Asn863Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2702A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1533A>G
  hgvsp: ENSP00000450296.1:p.Asn512Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2606A>G
  hgvsp: ENSP00000384646.3:p.Asn869Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2606A>G
  hgvsp: ENSP00000437968.2:p.Asn869Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1489A>G
  hgvsp: ENSP00000439979.2:p.Asn497Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1727A>G
  hgvsp: ENSP00000408681.1:p.Asn576Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2588A>G
  hgvsp: ENSP00000374611.3:p.Asn863Ser
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn869Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-31819115-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819115
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819115
    reference: chr 14
allele count: 1
allele frequency: 9.984224924619103e-6
allele num: 100158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2588G>C
  hgvsp: ENSP00000437968.2:p.Gly863Ala
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1471G>C
  hgvsp: ENSP00000439979.2:p.Gly491Ala
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1709G>C
  hgvsp: ENSP00000408681.1:p.Gly570Ala
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2570G>C
  hgvsp: ENSP00000405407.1:p.Gly857Ala
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2570G>C
  hgvsp: ENSP00000374611.3:p.Gly857Ala
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1515G>C
  hgvsp: ENSP00000450296.1:p.Gly506Ala
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2588G>C
  hgvsp: ENSP00000384646.3:p.Gly863Ala
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2684G>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly863Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-31819116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819116
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819116
    reference: chr 14
allele count: 1
allele frequency: 1.002184762782867e-5
allele num: 99782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2569G>A
  hgvsp: ENSP00000374611.3:p.Gly857Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2587G>A
  hgvsp: ENSP00000437968.2:p.Gly863Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1514G>A
  hgvsp: ENSP00000450296.1:p.Gly506Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2587G>A
  hgvsp: ENSP00000384646.3:p.Gly863Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1708G>A
  hgvsp: ENSP00000408681.1:p.Gly570Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2683G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2569G>A
  hgvsp: ENSP00000405407.1:p.Gly857Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1470G>A
  hgvsp: ENSP00000439979.2:p.Gly491Arg
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16346
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly863Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

14-31819117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819117
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819117
    reference: chr 14
allele count: 1
allele frequency: 1.007455168245013e-5
allele num: 99260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2568G>A
  hgvsp: ENSP00000405407.1:p.Met856Ile
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2568G>A
  hgvsp: ENSP00000374611.3:p.Met856Ile
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1513G>A
  hgvsp: ENSP00000450296.1:p.Met505Ile
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2682G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1707G>A
  hgvsp: ENSP00000408681.1:p.Met569Ile
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2586G>A
  hgvsp: ENSP00000384646.3:p.Met862Ile
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2586G>A
  hgvsp: ENSP00000437968.2:p.Met862Ile
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1469G>A
  hgvsp: ENSP00000439979.2:p.Met490Ile
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met862Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

14-31819120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819120
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819120
    reference: chr 14
allele count: 1
allele frequency: 1.025977756802233e-5
allele num: 97468
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1510T>C
  hgvsp: ENST00000550366.1:c.1510T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2583T>C
  hgvsp: ENST00000404677.3:c.2583T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2565T>C
  hgvsp: ENST00000439348.1:c.2565T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1466T>C
  hgvsp: ENST00000538864.2:c.1466T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2565T>C
  hgvsp: ENST00000389961.3:c.2565T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2583T>C
  hgvsp: ENST00000543095.2:c.2583T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1704T>C
  hgvsp: ENST00000439727.1:c.1704T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2679T>C
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val861Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

14-31819132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819132
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819132
    reference: chr 14
allele count: 42
allele frequency: 4.495440339084643e-4
allele num: 93428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2571C>T
  hgvsp: ENST00000543095.2:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2553C>T
  hgvsp: ENST00000389961.3:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2571C>T
  hgvsp: ENST00000404677.3:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2553C>T
  hgvsp: ENST00000439348.1:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2667C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1498C>T
  hgvsp: ENST00000550366.1:c.1498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1692C>T
  hgvsp: ENST00000439727.1:c.1692C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1454C>T
  hgvsp: ENST00000538864.2:c.1454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14603
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12902
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala857Ala
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

14-31819140-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819140
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819140
    reference: chr 14
allele count: 1
allele frequency: 1.130863527389515e-5
allele num: 88428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1684A>C
  hgvsp: ENST00000439727.1:c.1684A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2659A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1446A>C
  hgvsp: ENST00000538864.2:c.1446A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2545A>C
  hgvsp: ENST00000439348.1:c.2545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1490A>C
  hgvsp: ENST00000550366.1:c.1490A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2563A>C
  hgvsp: ENST00000404677.3:c.2563A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2545A>C
  hgvsp: ENST00000389961.3:c.2545A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2563A>C
  hgvsp: ENST00000543095.2:c.2563A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg855Arg
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: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/14-31819145-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819145
    reference: chr 14
allele count: 4
allele frequency: 4.605641911341393e-5
allele num: 86850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1485T>G
  hgvsp: ENSP00000450296.1:p.Met496Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2540T>G
  hgvsp: ENSP00000374611.3:p.Met847Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2558T>G
  hgvsp: ENSP00000437968.2:p.Met853Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1679T>G
  hgvsp: ENSP00000408681.1:p.Met560Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2540T>G
  hgvsp: ENSP00000405407.1:p.Met847Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2558T>G
  hgvsp: ENSP00000384646.3:p.Met853Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2654T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1441T>G
  hgvsp: ENSP00000439979.2:p.Met481Arg
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15957
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met853Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-31819145-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819145
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819145
    reference: chr 14
allele count: 1943
allele frequency: 2.237190558434082e-2
allele num: 86850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2540T>C
  hgvsp: ENSP00000405407.1:p.Met847Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2540T>C
  hgvsp: ENSP00000374611.3:p.Met847Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1485T>C
  hgvsp: ENSP00000450296.1:p.Met496Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1679T>C
  hgvsp: ENSP00000408681.1:p.Met560Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2558T>C
  hgvsp: ENSP00000437968.2:p.Met853Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1441T>C
  hgvsp: ENSP00000439979.2:p.Met481Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2558T>C
  hgvsp: ENSP00000384646.3:p.Met853Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2654T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 2.75e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 1.25e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 15957
  bin: 7.5e0
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 2.25e1
  variant carriers: 447
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.75e1
  variant carriers: 473
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 24244
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met853Thr
num of homozygotes: 23
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

14-31819151-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819151
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819151
    reference: chr 14
allele count: 5
allele frequency: 6.013952369497234e-5
allele num: 83140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1435A>G
  hgvsp: ENSP00000439979.2:p.Glu479Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2534A>G
  hgvsp: ENSP00000405407.1:p.Glu845Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2552A>G
  hgvsp: ENSP00000437968.2:p.Glu851Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2534A>G
  hgvsp: ENSP00000374611.3:p.Glu845Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2648A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1479A>G
  hgvsp: ENSP00000450296.1:p.Glu494Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2552A>G
  hgvsp: ENSP00000384646.3:p.Glu851Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1673A>G
  hgvsp: ENSP00000408681.1:p.Glu558Gly
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12011
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu851Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-31819159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819159
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819159
    reference: chr 14
allele count: 2
allele frequency: 2.581911130618884e-5
allele num: 77462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2544A>G
  hgvsp: ENST00000543095.2:c.2544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2544A>G
  hgvsp: ENST00000404677.3:c.2544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2526A>G
  hgvsp: ENST00000439348.1:c.2526A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1471A>G
  hgvsp: ENST00000550366.1:c.1471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1665A>G
  hgvsp: ENST00000439727.1:c.1665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1427A>G
  hgvsp: ENST00000538864.2:c.1427A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2640A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2526A>G
  hgvsp: ENST00000389961.3:c.2526A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu848Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-31819166-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819166
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819166
    reference: chr 14
allele count: 1
allele frequency: 1.357146734704956e-5
allele num: 73684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2537G>A
  hgvsp: ENSP00000384646.3:p.Gly846Glu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2519G>A
  hgvsp: ENSP00000374611.3:p.Gly840Glu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2519G>A
  hgvsp: ENSP00000405407.1:p.Gly840Glu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2537G>A
  hgvsp: ENSP00000437968.2:p.Gly846Glu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1658G>A
  hgvsp: ENSP00000408681.1:p.Gly553Glu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1464G>A
  hgvsp: ENSP00000450296.1:p.Gly489Glu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2633G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1420G>A
  hgvsp: ENSP00000439979.2:p.Gly474Glu
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly846Glu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-31819168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819168
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819168
    reference: chr 14
allele count: 1
allele frequency: 1.380338458990144e-5
allele num: 72446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2535G>A
  hgvsp: ENST00000404677.3:c.2535G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2517G>A
  hgvsp: ENST00000439348.1:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1656G>A
  hgvsp: ENST00000439727.1:c.1656G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1462G>A
  hgvsp: ENST00000550366.1:c.1462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2517G>A
  hgvsp: ENST00000389961.3:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1418G>A
  hgvsp: ENST00000538864.2:c.1418G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2535G>A
  hgvsp: ENST00000543095.2:c.2535G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2631G>A
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys845Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

14-31819182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819182
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819182
    reference: chr 14
allele count: 1
allele frequency: 1.636982713462546e-5
allele num: 61088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1448G>A
  hgvsp: ENSP00000450296.1:p.Val484Met
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2521G>A
  hgvsp: ENSP00000384646.3:p.Val841Met
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2503G>A
  hgvsp: ENSP00000374611.3:p.Val835Met
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2617G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1642G>A
  hgvsp: ENSP00000408681.1:p.Val548Met
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2503G>A
  hgvsp: ENSP00000405407.1:p.Val835Met
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2521G>A
  hgvsp: ENSP00000437968.2:p.Val841Met
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1404G>A
  hgvsp: ENSP00000439979.2:p.Val469Met
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18778
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val841Met
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-31819183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819183
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819183
    reference: chr 14
allele count: 5
allele frequency: 8.347245409015025e-5
allele num: 59900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1403C>T
  hgvsp: ENST00000538864.2:c.1403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2502C>T
  hgvsp: ENST00000389961.3:c.2502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1447C>T
  hgvsp: ENST00000550366.1:c.1447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2616C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1641C>T
  hgvsp: ENST00000439727.1:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2520C>T
  hgvsp: ENST00000543095.2:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2502C>T
  hgvsp: ENST00000439348.1:c.2502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2520C>T
  hgvsp: ENST00000404677.3:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18783
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1447C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

14-31819192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819192
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819192
    reference: chr 14
allele count: 5
allele frequency: 9.345445030092333e-5
allele num: 53502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1639-7A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2500-7A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2518-7A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2614-7A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1401-7A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1445-7A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2518-7A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2500-7A>G
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25095
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18231
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1445-7A>G
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

14-31819200-GAAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819200
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819197
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 47058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2518-18_2518-16delGTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1445-18_1445-16delGTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1639-18_1639-16delGTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1401-18_1401-16delGTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2500-18_2500-16delGTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2500-18_2500-16delGTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2518-18_2518-16delGTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2614-18_*2614-16delGTT
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24557
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: GAAC
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

14-31819216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819216
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819216
    reference: chr 14
allele count: 2
allele frequency: 6.102770657878677e-5
allele num: 32772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2500-31G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2518-31G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1401-31G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1639-31G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2518-31G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1445-31G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2614-31G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2500-31G>A
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24041
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11211
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4975
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-31819219-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819219
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819219
    reference: chr 14
allele count: 58
allele frequency: 2.05907412666856e-3
allele num: 28168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2614-34A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2518-34A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1445-34A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1639-34A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2518-34A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2500-34A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2500-34A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1401-34A>T
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19516
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25240
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17323
  bin: 2.25e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

14-31819219-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819219
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819219
    reference: chr 14
allele count: 1
allele frequency: 3.550127804600966e-5
allele num: 28168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2614-34A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2518-34A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2500-34A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1639-34A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2500-34A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1401-34A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1445-34A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2518-34A>G
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-31819222-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819222
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819222
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 26728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2518-37A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2518-37A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1445-37A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2614-37A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1639-37A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2500-37A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2500-37A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1401-37A>G
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25717
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-31819223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819223
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819223
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 26818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2500-38T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2518-38T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1639-38T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2518-38T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2500-38T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1445-38T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2614-38T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1401-38T>C
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25723
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21536
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-31819225-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819225
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819225
    reference: chr 14
allele count: 77
allele frequency: 3.184976836532098e-3
allele num: 24176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1639-40A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2614-40A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2518-40A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2518-40A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2500-40A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1445-40A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2500-40A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1401-40A>G
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19786
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26657
  bin: 7.5e0
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 1.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 21174
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 12959
  bin: 2.25e1
  variant carriers: 11
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS

14-31819769-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819769
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819769
    reference: chr 14
allele count: 3
allele frequency: 1.291100017214667e-4
allele num: 23236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1638+49T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2517+49T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1444+49T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2499+49T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2613+49T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2517+49T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2499+49T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1400+49T>A
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31037
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14394
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21645
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

14-31819775-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819775
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819775
    reference: chr 14
allele count: 1
allele frequency: 4.30551967622492e-5
allele num: 23226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1400+43A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2499+43A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2517+43A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2613+43A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1638+43A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2499+43A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1444+43A>T
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2517+43A>T
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5066
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6838
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-31819776-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819776
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819776
    reference: chr 14
allele count: 5
allele frequency: 2.159267576438072e-4
allele num: 23156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2517+42T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1638+42T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1400+42T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1444+42T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2499+42T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2517+42T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2613+42T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2499+42T>A
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30960
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14616
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6755
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 9.75e1
  variant carriers: 4
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: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-31819809-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819809
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819809
    reference: chr 14
allele count: 179
allele frequency: 6.529510469103378e-3
allele num: 27414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2499+9T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1400+9T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2517+9T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2613+9T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2499+9T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1444+9T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2517+9T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1638+9T>A
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 30135
  bin: 7.5e0
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 15697
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 6
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

14-31819812-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819812
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819812
    reference: chr 14
allele count: 1
allele frequency: 3.541327289468093e-5
allele num: 28238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1444+6T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2613+6T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2517+6T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2499+6T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1638+6T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2499+6T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1400+6T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2517+6T>C
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13115
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1638+6T>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

14-31819827-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819827
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819827
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 38516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2490T>C
  hgvsp: ENST00000439348.1:c.2490T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1391T>C
  hgvsp: ENST00000538864.2:c.1391T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1435T>C
  hgvsp: ENST00000550366.1:c.1435T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2508T>C
  hgvsp: ENST00000404677.3:c.2508T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2490T>C
  hgvsp: ENST00000389961.3:c.2490T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1629T>C
  hgvsp: ENST00000439727.1:c.1629T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2604T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2508T>C
  hgvsp: ENST00000543095.2:c.2508T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35143
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser479Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

14-31819849-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819849
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819849
    reference: chr 14
allele count: 2
allele frequency: 3.761378168961107e-5
allele num: 53172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2468A>G
  hgvsp: ENSP00000374611.3:p.His823Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2582A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2486A>G
  hgvsp: ENSP00000437968.2:p.His829Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1413A>G
  hgvsp: ENSP00000450296.1:p.His472Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2486A>G
  hgvsp: ENSP00000384646.3:p.His829Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2468A>G
  hgvsp: ENSP00000405407.1:p.His823Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1607A>G
  hgvsp: ENSP00000408681.1:p.His536Arg
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1369A>G
  hgvsp: ENSP00000439979.2:p.His457Arg
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His472Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

14-31819860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819860
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819860
    reference: chr 14
allele count: 279
allele frequency: 4.7520098106009e-3
allele num: 58712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2475G>A
  hgvsp: ENST00000543095.2:c.2475G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1596G>A
  hgvsp: ENST00000439727.1:c.1596G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2475G>A
  hgvsp: ENST00000404677.3:c.2475G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2457G>A
  hgvsp: ENST00000389961.3:c.2457G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2457G>A
  hgvsp: ENST00000439348.1:c.2457G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2571G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1358G>A
  hgvsp: ENST00000538864.2:c.1358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1402G>A
  hgvsp: ENST00000550366.1:c.1402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14493
  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28840
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 1.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val468Val
num of homozygotes: 1
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/14-31819870-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819870
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819870
    reference: chr 14
allele count: 6
allele frequency: 9.66183574879227e-5
allele num: 62100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1348G>T
  hgvsp: ENSP00000439979.2:p.Arg450Leu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2447G>T
  hgvsp: ENSP00000405407.1:p.Arg816Leu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2465G>T
  hgvsp: ENSP00000437968.2:p.Arg822Leu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1392G>T
  hgvsp: ENSP00000450296.1:p.Arg465Leu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2447G>T
  hgvsp: ENSP00000374611.3:p.Arg816Leu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2465G>T
  hgvsp: ENSP00000384646.3:p.Arg822Leu
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2561G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1586G>T
  hgvsp: ENSP00000408681.1:p.Arg529Leu
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg465Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

14-31819870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819870
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819870
    reference: chr 14
allele count: 286
allele frequency: 4.605475040257649e-3
allele num: 62100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2447G>A
  hgvsp: ENSP00000405407.1:p.Arg816His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2561G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1348G>A
  hgvsp: ENSP00000439979.2:p.Arg450His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1392G>A
  hgvsp: ENSP00000450296.1:p.Arg465His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2465G>A
  hgvsp: ENSP00000384646.3:p.Arg822His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1586G>A
  hgvsp: ENSP00000408681.1:p.Arg529His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2465G>A
  hgvsp: ENSP00000437968.2:p.Arg822His
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2447G>A
  hgvsp: ENSP00000374611.3:p.Arg816His
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 27270
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 1.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28173
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.75e1
  variant carriers: 2
hgvs: p.Arg465His
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

14-31819871-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819871
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819871
    reference: chr 14
allele count: 2
allele frequency: 3.204717343930265e-5
allele num: 62408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1585C>A
  hgvsp: ENSP00000408681.1:p.Arg529Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2464C>A
  hgvsp: ENSP00000437968.2:p.Arg822Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1347C>A
  hgvsp: ENSP00000439979.2:p.Arg450Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2464C>A
  hgvsp: ENSP00000384646.3:p.Arg822Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2446C>A
  hgvsp: ENSP00000405407.1:p.Arg816Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2446C>A
  hgvsp: ENSP00000374611.3:p.Arg816Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1391C>A
  hgvsp: ENSP00000450296.1:p.Arg465Ser
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2560C>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28088
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg465Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

14-31819875-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819875
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819875
    reference: chr 14
allele count: 1
allele frequency: 1.573762236001385e-5
allele num: 63542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2442A>T
  hgvsp: ENST00000389961.3:c.2442A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1387A>T
  hgvsp: ENST00000550366.1:c.1387A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2460A>T
  hgvsp: ENST00000404677.3:c.2460A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1581A>T
  hgvsp: ENST00000439727.1:c.1581A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1343A>T
  hgvsp: ENST00000538864.2:c.1343A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2442A>T
  hgvsp: ENST00000439348.1:c.2442A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2460A>T
  hgvsp: ENST00000543095.2:c.2460A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2556A>T
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly463Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

14-31819886-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819886
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819886
    reference: chr 14
allele count: 3
allele frequency: 4.620075769242615e-5
allele num: 64934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1376C>G
  hgvsp: ENSP00000450296.1:p.His460Asp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2449C>G
  hgvsp: ENSP00000384646.3:p.His817Asp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1570C>G
  hgvsp: ENSP00000408681.1:p.His524Asp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2449C>G
  hgvsp: ENSP00000437968.2:p.His817Asp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2431C>G
  hgvsp: ENSP00000374611.3:p.His811Asp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2431C>G
  hgvsp: ENSP00000405407.1:p.His811Asp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1332C>G
  hgvsp: ENSP00000439979.2:p.His445Asp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2545C>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25309
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His460Asp
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/14-31819887-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819887
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819887
    reference: chr 14
allele count: 2
allele frequency: 3.071913494915983e-5
allele num: 65106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1331G>T
  hgvsp: ENSP00000439979.2:p.Lys444Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1569G>T
  hgvsp: ENSP00000408681.1:p.Lys523Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1375G>T
  hgvsp: ENSP00000450296.1:p.Lys459Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2430G>T
  hgvsp: ENSP00000374611.3:p.Lys810Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2448G>T
  hgvsp: ENSP00000384646.3:p.Lys816Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2544G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2430G>T
  hgvsp: ENSP00000405407.1:p.Lys810Asn
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2448G>T
  hgvsp: ENSP00000437968.2:p.Lys816Asn
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys459Asn
num of homozygotes: 1
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-31819895-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819895
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819895
    reference: chr 14
allele count: 1
allele frequency: 1.524250830716703e-5
allele num: 65606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2440A>G
  hgvsp: ENSP00000437968.2:p.Ser814Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2422A>G
  hgvsp: ENSP00000405407.1:p.Ser808Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2536A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2422A>G
  hgvsp: ENSP00000374611.3:p.Ser808Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1561A>G
  hgvsp: ENSP00000408681.1:p.Ser521Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2440A>G
  hgvsp: ENSP00000384646.3:p.Ser814Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1367A>G
  hgvsp: ENSP00000450296.1:p.Ser457Gly
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1323A>G
  hgvsp: ENSP00000439979.2:p.Ser442Gly
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser457Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

14-31819904-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819904
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819904
    reference: chr 14
allele count: 1
allele frequency: 1.515427047341941e-5
allele num: 65988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2431C>G
  hgvsp: ENSP00000437968.2:p.Leu811Val
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1552C>G
  hgvsp: ENSP00000408681.1:p.Leu518Val
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2431C>G
  hgvsp: ENSP00000384646.3:p.Leu811Val
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2413C>G
  hgvsp: ENSP00000374611.3:p.Leu805Val
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2527C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1358C>G
  hgvsp: ENSP00000450296.1:p.Leu454Val
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2413C>G
  hgvsp: ENSP00000405407.1:p.Leu805Val
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1314C>G
  hgvsp: ENSP00000439979.2:p.Leu439Val
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu454Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

14-31819905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819905
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819905
    reference: chr 14
allele count: 1
allele frequency: 1.517911353976928e-5
allele num: 65880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2526G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2430G>A
  hgvsp: ENST00000543095.2:c.2430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2430G>A
  hgvsp: ENST00000404677.3:c.2430G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1357G>A
  hgvsp: ENST00000550366.1:c.1357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1313G>A
  hgvsp: ENST00000538864.2:c.1313G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2412G>A
  hgvsp: ENST00000389961.3:c.2412G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2412G>A
  hgvsp: ENST00000439348.1:c.2412G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1551G>A
  hgvsp: ENST00000439727.1:c.1551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln453Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

14-31819911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819911
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819911
    reference: chr 14
allele count: 2
allele frequency: 3.028100775193798e-5
allele num: 66048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1545G>A
  hgvsp: ENST00000439727.1:c.1545G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1351G>A
  hgvsp: ENST00000550366.1:c.1351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2406G>A
  hgvsp: ENST00000389961.3:c.2406G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2424G>A
  hgvsp: ENST00000404677.3:c.2424G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2424G>A
  hgvsp: ENST00000543095.2:c.2424G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2520G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2406G>A
  hgvsp: ENST00000439348.1:c.2406G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1307G>A
  hgvsp: ENST00000538864.2:c.1307G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu451Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

14-31819913-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819913
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819913
    reference: chr 14
allele count: 76731
allele frequency: 8.826147970921138e-1
allele num: 86936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1305T>C
  hgvsp: ENST00000538864.2:c.1305T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2404T>C
  hgvsp: ENST00000439348.1:c.2404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2404T>C
  hgvsp: ENST00000389961.3:c.2404T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1349T>C
  hgvsp: ENST00000550366.1:c.1349T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2422T>C
  hgvsp: ENST00000543095.2:c.2422T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1543T>C
  hgvsp: ENST00000439727.1:c.1543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2422T>C
  hgvsp: ENST00000404677.3:c.2422T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2518T>C
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 341
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 605
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.25e1
  variant carriers: 674
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 290
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.25e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.75e1
  variant carriers: 1455
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 478
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 368
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 450
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.25e1
  variant carriers: 3627
genotype depth: GenotypeDepth
  all individuals: 17515
  bin: 1.25e1
  variant carriers: 16978
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.5e0
  variant carriers: 1467
genotype depth: GenotypeDepth
  all individuals: 14030
  bin: 7.5e0
  variant carriers: 12863
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 9.75e1
  variant carriers: 5262
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.75e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 9.25e1
  variant carriers: 731
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 1.75e1
  variant carriers: 9454
genotype quality: GenotypeQuality
  all individuals: 17861
  bin: 9.75e1
  variant carriers: 17811
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 1029
genotype quality: GenotypeQuality
  all individuals: 6016
  bin: 3.25e1
  variant carriers: 5988
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 7.25e1
  variant carriers: 420
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 1055
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 5.25e1
  variant carriers: 2680
hgvs: p.Leu451Leu
num of homozygotes: 33951
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-31819919-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819919
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819918
    reference: chr 14
allele count: 1
allele frequency: 1.685431133283894e-5
allele num: 59332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2397delT
  hgvsp: ENSP00000374611.3:p.Ile801TyrfsTer9
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2415delT
  hgvsp: ENSP00000437968.2:p.Ile807TyrfsTer9
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2397delT
  hgvsp: ENSP00000405407.1:p.Ile801TyrfsTer9
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2415delT
  hgvsp: ENSP00000384646.3:p.Ile807TyrfsTer9
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1342delT
  hgvsp: ENSP00000450296.1:p.Ile450TyrfsTer9
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1298delT
  hgvsp: ENSP00000439979.2:p.Ile435TyrfsTer9
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2511delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1536delT
  hgvsp: ENSP00000408681.1:p.Ile514TyrfsTer9
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile450TyrfsTer9
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: GA
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

14-31819923-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819923
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819923
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 57282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412G>A
  hgvsp: ENST00000404677.3:c.2412G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394G>A
  hgvsp: ENST00000389961.3:c.2394G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394G>A
  hgvsp: ENST00000439348.1:c.2394G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295G>A
  hgvsp: ENST00000538864.2:c.1295G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339G>A
  hgvsp: ENST00000550366.1:c.1339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533G>A
  hgvsp: ENST00000439727.1:c.1533G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412G>A
  hgvsp: ENST00000543095.2:c.2412G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508G>A
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29974
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1533G>A
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

14-31819939-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819939
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819939
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 47888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339-16T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394-16T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394-16T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412-16T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295-16T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508-16T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412-16T>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533-16T>A
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19512
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23147
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

14-31819953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819953
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819953
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 35898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295-30G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394-30G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339-30G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412-30G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533-30G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394-30G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412-30G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508-30G>A
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21932
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

14-31819959-GGTAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819959
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819955
    reference: chr 14
allele count: 3
allele frequency: 9.747855471796205e-5
allele num: 30776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295-40_1295-37delTTAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394-40_2394-37delTTAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412-40_2412-37delTTAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339-40_1339-37delTTAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412-40_2412-37delTTAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394-40_2394-37delTTAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508-40_*2508-37delTTAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533-40_1533-37delTTAC
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13727
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6905
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GGTAA
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-31819961-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819961
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819958
    reference: chr 14
allele count: 1
allele frequency: 3.601527047468127e-5
allele num: 27766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412-41_2412-39delCTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394-41_2394-39delCTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394-41_2394-39delCTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533-41_1533-39delCTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295-41_1295-39delCTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339-41_1339-39delCTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412-41_2412-39delCTT
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508-41_*2508-39delCTT
canonical: false
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: TAAG
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

14-31819963-AGTTTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819963
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819957
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 26778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394-46_2394-41delAAAAAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412-46_2412-41delAAAAAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339-46_1339-41delAAAAAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295-46_1295-41delAAAAAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394-46_2394-41delAAAAAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533-46_1533-41delAAAAAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412-46_2412-41delAAAAAC
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508-46_*2508-41delAAAAAC
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11824
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26463
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4764
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: AGTTTTT
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

14-31819964-GTTTTTGTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819964
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819956
    reference: chr 14
allele count: 2
allele frequency: 8.530967411704488e-5
allele num: 23444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21440
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4859
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: GTTTTTGTT
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS

14-31819965-TTTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819965
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819960
    reference: chr 14
allele count: 1
allele frequency: 4.351610095735422e-5
allele num: 22980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394-47_2394-43delCAAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508-47_*2508-43delCAAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412-47_2412-43delCAAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295-47_1295-43delCAAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533-47_1533-43delCAAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339-47_1339-43delCAAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412-47_2412-43delCAAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394-47_2394-43delCAAAA
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: TTTTTG
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-31819966-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819966
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819966
    reference: chr 14
allele count: 1
allele frequency: 5.224114512590116e-5
allele num: 19142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394-43A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339-43A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295-43A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412-43A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412-43A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508-43A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533-43A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394-43A>C
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17302
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

14-31819966-T-TTTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819966
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819970
    reference: chr 14
allele count: 355
allele frequency: 1.854560651969491e-2
allele num: 19142
alternate allele: TTTTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412-47_2412-44dupCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508-47_*2508-44dupCAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412-47_2412-44dupCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533-47_1533-44dupCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295-47_1295-44dupCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394-47_2394-44dupCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339-47_1339-44dupCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394-47_2394-44dupCAAA
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 17302
  bin: 7.5e0
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 9311
  bin: 1.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 7.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 6.75e1
  variant carriers: 6
num of homozygotes: 6
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-31819966-T-TTTTGTTTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819966
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819974
    reference: chr 14
allele count: 8
allele frequency: 4.179291610072093e-4
allele num: 19142
alternate allele: TTTTGTTTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17302
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16969
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9311
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

14-31819966-TTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819966
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819962
    reference: chr 14
allele count: 16234
allele frequency: 8.480827499738794e-1
allele num: 19142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1339-47_1339-44delCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2508-47_*2508-44delCAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2412-47_2412-44delCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2394-47_2394-44delCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1533-47_1533-44delCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1295-47_1295-44delCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2412-47_2412-44delCAAA
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2394-47_2394-44delCAAA
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 17302
  bin: 7.5e0
  variant carriers: 5041
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 1385
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.5e0
  variant carriers: 9079
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.75e1
  variant carriers: 689
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 2491
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.25e1
  variant carriers: 430
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.25e1
  variant carriers: 2851
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 16969
  bin: 2.5e0
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 7.5e0
  variant carriers: 184
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 9.75e1
  variant carriers: 3458
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 1.75e1
  variant carriers: 2486
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 561
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 6.25e1
  variant carriers: 595
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 6.75e1
  variant carriers: 523
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 694
num of homozygotes: 7229
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: TTTTG
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

14-31819966-TTTTGTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819966
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819958
    reference: chr 14
allele count: 133
allele frequency: 6.948072301744854e-3
allele num: 19142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.5e0
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17302
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 9.75e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 4
num of homozygotes: 1
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: TTTTGTTTG
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

14-31819966-TTTTGTTTGTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31819966
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31819954
    reference: chr 14
allele count: 150
allele frequency: 7.836171768885174e-3
allele num: 19142
alternate allele: T
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17302
  bin: 7.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16969
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9311
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 9.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 3
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 6.211180124223603e-4
  allele num: 1610
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 4.587155963302753e-3
  allele num: 218
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1928
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 432
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: TTTTGTTTGTTTG
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

14-31827810-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827810
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827810
    reference: chr 14
allele count: 9
allele frequency: 7.641624779241951e-5
allele num: 117776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1338+33A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1532+33A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2393+33A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2393+33A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1294+33A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2411+33A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2507+33A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2411+33A>G
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

14-31827821-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827821
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827821
    reference: chr 14
allele count: 4
allele frequency: 3.385469564628614e-5
allele num: 118152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2411+22G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2411+22G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2393+22G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1338+22G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1532+22G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2393+22G>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2507+22G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1294+22G>C
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

14-31827826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827826
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827826
    reference: chr 14
allele count: 2
allele frequency: 1.687906152417926e-5
allele num: 118490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1294+17G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2393+17G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2393+17G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1338+17G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2411+17G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2411+17G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1532+17G>A
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2507+17G>A
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

14-31827829-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827829
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827829
    reference: chr 14
allele count: 1
allele frequency: 8.419492809753141e-6
allele num: 118772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2393+14A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2393+14A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1294+14A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2411+14A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2507+14A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1338+14A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2411+14A>G
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1532+14A>G
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-31827835-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827835
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827835
    reference: chr 14
allele count: 1
allele frequency: 8.389965601141035e-6
allele num: 119190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2411+8T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2411+8T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2507+8T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1338+8T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1294+8T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1532+8T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2393+8T>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2393+8T>C
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1532+8T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

14-31827836-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827836
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827836
    reference: chr 14
allele count: 1
allele frequency: 8.385884878572387e-6
allele num: 119248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2393+7A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1294+7A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1338+7A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2411+7A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2507+7A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1532+7A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2393+7A>C
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2411+7A>C
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1532+7A>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

14-31827862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827862
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827862
    reference: chr 14
allele count: 5
allele frequency: 4.150548702538475e-5
allele num: 120466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1513C>T
  hgvsp: ENSP00000408681.1:p.His505Tyr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2392C>T
  hgvsp: ENSP00000384646.3:p.His798Tyr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2374C>T
  hgvsp: ENSP00000405407.1:p.His792Tyr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2374C>T
  hgvsp: ENSP00000374611.3:p.His792Tyr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1319C>T
  hgvsp: ENSP00000450296.1:p.His441Tyr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2392C>T
  hgvsp: ENSP00000437968.2:p.His798Tyr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1275C>T
  hgvsp: ENSP00000439979.2:p.His426Tyr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2488C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His441Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-31827865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827865
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827865
    reference: chr 14
allele count: 8
allele frequency: 6.638453240394989e-5
allele num: 120510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2389G>A
  hgvsp: ENSP00000437968.2:p.Ala797Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2485G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1316G>A
  hgvsp: ENSP00000450296.1:p.Ala440Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2389G>A
  hgvsp: ENSP00000384646.3:p.Ala797Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1510G>A
  hgvsp: ENSP00000408681.1:p.Ala504Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2371G>A
  hgvsp: ENSP00000374611.3:p.Ala791Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2371G>A
  hgvsp: ENSP00000405407.1:p.Ala791Thr
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1272G>A
  hgvsp: ENSP00000439979.2:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala440Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

14-31827866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827866
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827866
    reference: chr 14
allele count: 3
allele frequency: 2.488717812582957e-5
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1271C>T
  hgvsp: ENST00000538864.2:c.1271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2484C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2370C>T
  hgvsp: ENST00000389961.3:c.2370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1315C>T
  hgvsp: ENST00000550366.1:c.1315C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2388C>T
  hgvsp: ENST00000404677.3:c.2388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1509C>T
  hgvsp: ENST00000439727.1:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2388C>T
  hgvsp: ENST00000543095.2:c.2388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2370C>T
  hgvsp: ENST00000439348.1:c.2370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys439Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum

14-31827866-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827866
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827866
    reference: chr 14
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1271C>G
  hgvsp: ENSP00000439979.2:p.Cys424Trp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2388C>G
  hgvsp: ENSP00000384646.3:p.Cys796Trp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2388C>G
  hgvsp: ENSP00000437968.2:p.Cys796Trp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2484C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2370C>G
  hgvsp: ENSP00000374611.3:p.Cys790Trp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1315C>G
  hgvsp: ENSP00000450296.1:p.Cys439Trp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1509C>G
  hgvsp: ENSP00000408681.1:p.Cys503Trp
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2370C>G
  hgvsp: ENSP00000405407.1:p.Cys790Trp
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys439Trp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

14-31827878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827878
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827878
    reference: chr 14
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2358T>C
  hgvsp: ENST00000389961.3:c.2358T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2376T>C
  hgvsp: ENST00000404677.3:c.2376T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1303T>C
  hgvsp: ENST00000550366.1:c.1303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2376T>C
  hgvsp: ENST00000543095.2:c.2376T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1497T>C
  hgvsp: ENST00000439727.1:c.1497T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1259T>C
  hgvsp: ENST00000538864.2:c.1259T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2472T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2358T>C
  hgvsp: ENST00000439348.1:c.2358T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe435Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-31827884-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31827884
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 31827884
    reference: chr 14
allele count: 3
allele frequency: 2.485748375977728e-5
allele num: 120688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000374611
  ensembl transcript: ENST00000389961
  gene symbol: HEATR5A
  hgvsc: ENST00000389961.3:c.2352G>A
  hgvsp: ENST00000389961.3:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000439979
  ensembl transcript: ENST00000538864
  gene symbol: HEATR5A
  hgvsc: ENST00000538864.2:c.1253G>A
  hgvsp: ENST00000538864.2:c.1253G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000203546
  ensembl protein: ENSP00000446654
  ensembl transcript: ENST00000549185
  gene symbol: RP11-176H8.1
  hgvsc: ENST00000549185.1:c.*2466G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000437968
  ensembl transcript: ENST00000543095
  gene symbol: HEATR5A
  hgvsc: ENST00000543095.2:c.2370G>A
  hgvsp: ENST00000543095.2:c.2370G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000384646
  ensembl transcript: ENST00000404677
  gene symbol: HEATR5A
  hgvsc: ENST00000404677.3:c.2370G>A
  hgvsp: ENST00000404677.3:c.2370G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000405407
  ensembl transcript: ENST00000439348
  gene symbol: HEATR5A
  hgvsc: ENST00000439348.1:c.2352G>A
  hgvsp: ENST00000439348.1:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000450296
  ensembl transcript: ENST00000550366
  gene symbol: HEATR5A
  hgvsc: ENST00000550366.1:c.1297G>A
  hgvsp: ENST00000550366.1:c.1297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129493
  ensembl protein: ENSP00000408681
  ensembl transcript: ENST00000439727
  gene symbol: HEATR5A
  hgvsc: ENST00000439727.1:c.1491G>A
  hgvsp: ENST00000439727.1:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20276
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys433Lys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8005
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1316
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32992
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.708707902857909e-5
allele num: 14906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

FS
type: SiteQuality
SIO_000300: 3.951e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

DP
type: SiteQuality
SIO_000300: 1.404349e6

GenotypeQuality
all individuals: 1425
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31449
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10550
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5419
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.679035561973203e-5
allele num: 59558
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.586e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.925e0

VQSLOD
type: SiteQuality
SIO_000300: -1.453e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.091e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.06e-1

DP
type: SiteQuality
SIO_000300: 1.346931e6

GenotypeQuality
all individuals: 710
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30682
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.69704374978787e-5
allele num: 58926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.6571e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.279e0

DP
type: SiteQuality
SIO_000300: 1.328719e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4009
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.134301270417423e-4
allele num: 8816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 1.240358e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.564e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.115e0

VQSLOD
type: SiteQuality
SIO_000300: -2.543e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

GenotypeQuality
all individuals: 1881
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1774
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.400560224089636e-4
allele num: 7140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.59e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

DP
type: SiteQuality
SIO_000300: 1.235863e6

QD
type: SiteQuality
SIO_000300: 1.36e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.168e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 4.359e0

GenotypeQuality
all individuals: 1776
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.722356183258698e-4
allele num: 5806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

QD
type: SiteQuality
SIO_000300: 2.508e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

VQSLOD
type: SiteQuality
SIO_000300: -2.682e0

DP
type: SiteQuality
SIO_000300: 1.2303e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.47e-1

GenotypeQuality
all individuals: 3585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.858114385521573e-5
allele num: 53818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.427e0

DP
type: SiteQuality
SIO_000300: 1.201739e6

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 9.44e-1

QD
type: SiteQuality
SIO_000300: 1.545e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 824
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 936
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 24016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1934
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 676
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.247193813918683e-4
allele num: 8018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6742
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.263264274886306e-4
allele num: 7916
num of homozygotes: 0

South Asian
type: Population
allele count: 40
allele frequency: 3.074558032282859e-3
allele num: 13010
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.148904e6

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

FS
type: SiteQuality
SIO_000300: 3.149e0

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 19879
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.317870321560359e-4
allele num: 7588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12222
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.081689e6

FS
type: SiteQuality
SIO_000300: 1.668e0

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.455e1

GenotypeQuality
all individuals: 1046
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 19590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24244
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variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 4.25e1
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GenotypeQuality
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.344807443568239e-5
allele num: 47934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.398e1

DP
type: SiteQuality
SIO_000300: 1.062252e6

VQSLOD
type: SiteQuality
SIO_000300: 6.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

GenotypeQuality
all individuals: 1258
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 841
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 552
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 465
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1959
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1046
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 1947
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 17

GenotypeQuality
all individuals: 19590
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 218
bin: 9.25e1
variant carriers: 19

GenotypeQuality
all individuals: 2508
bin: 9.75e1
variant carriers: 1855

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 18

GenotypeQuality
all individuals: 2348
bin: 6.75e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 1546
allele frequency: 3.225268076939124e-2
allele num: 47934
num of homozygotes: 19

African
type: Population
allele count: 49
allele frequency: 6.542056074766356e-3
allele num: 7490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

South Asian
type: Population
allele count: 77
allele frequency: 6.445672191528545e-3
allele num: 11946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 219
allele frequency: 4.193795480658751e-2
allele num: 5222
num of homozygotes: 4

Other
type: Population
allele count: 18
allele frequency: 2.795031055900621e-2
allele num: 644
num of homozygotes: 0

Latino
type: Population
allele count: 34
allele frequency: 4.689655172413793e-3
allele num: 7250
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.398e1

DP
type: SiteQuality
SIO_000300: 1.062252e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

GenotypeQuality
all individuals: 475
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 511
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18625
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variant carriers: 0

GenotypeQuality
all individuals: 27219
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1026
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variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 355
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45676
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.407616361071932e-4
allele num: 11344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 1.002658e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

QD
type: SiteQuality
SIO_000300: 1.032e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 533
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15054
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.35072872590503e-5
allele num: 42540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.555693839452396e-4
allele num: 6428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 9.32795e5

QD
type: SiteQuality
SIO_000300: 1.653e1

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

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2077
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 624
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 515
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.052853232259423e-4
allele num: 9498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.82498e5

VQSLOD
type: SiteQuality
SIO_000300: -2.095e0

FS
type: SiteQuality
SIO_000300: 5.842e0

QD
type: SiteQuality
SIO_000300: 4.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
all individuals: 33900
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
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variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 144
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.510117789187557e-4
allele num: 6622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.267e0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.134e0

DP
type: SiteQuality
SIO_000300: 8.70292e5

QD
type: SiteQuality
SIO_000300: 8.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1702
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37568
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1320
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.074688796680498e-4
allele num: 4820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 7.41771e5

GenotypeQuality
all individuals: 1003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37648
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 5.235602094240838e-4
allele num: 5730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33308
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.278990158322636e-4
allele num: 4674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4150
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6942
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.33238e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

FS
type: SiteQuality
SIO_000300: 1.0055e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.183e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 1509
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8423
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 668
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 7.513148009015778e-4
allele num: 5324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.351206434316354e-5
allele num: 29840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.67369e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 1.098e1

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
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variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
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variant carriers: 0

GenotypeQuality
all individuals: 259
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3600
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.627e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.68e0

DP
type: SiteQuality
SIO_000300: 6.13729e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

GenotypeQuality
all individuals: 3198
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 623
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variant carriers: 0

GenotypeQuality
all individuals: 21464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 1995
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
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variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 7.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.082368221669012e-4
allele num: 18478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.14e0

DP
type: SiteQuality
SIO_000300: 5.10503e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1702
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1431
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 223
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variant carriers: 2

GenotypeQuality
all individuals: 6281
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 715
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 2.793296089385475e-3
allele num: 1432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2186
num of homozygotes: 0

African
type: Population
allele count: 53
allele frequency: 1.508252703471827e-2
allele num: 3514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.314725940894166e-5
allele num: 15836
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.19e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.336e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 4.8476e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
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variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.314725940894166e-5
allele num: 15836
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.336e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.19e-2

DP
type: SiteQuality
SIO_000300: 4.8476e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 21422
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6854
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 748
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
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GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 660
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GenotypeQuality
all individuals: 236
bin: 4.25e1
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GenotypeQuality
all individuals: 234
bin: 8.25e1
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GenotypeQuality
all individuals: 1359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15088
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.74997e5

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 1.78e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
all individuals: 4642
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 2.5e0
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GenotypeQuality
all individuals: 6844
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 214
bin: 4.75e1
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GenotypeQuality
all individuals: 125
bin: 8.75e1
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GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.74466e5

QD
type: SiteQuality
SIO_000300: 1.165e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.819e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

GenotypeQuality
all individuals: 1448
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2403
bin: 2.5e0
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GenotypeQuality
all individuals: 764
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 327
bin: 4.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1087
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 7727
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 238
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 471
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 755
bin: 9.75e1
variant carriers: 98

South Asian
type: Population
allele count: 28
allele frequency: 1.589103291713961e-2
allele num: 1762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 2.558105540125713e-3
allele num: 13682
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.656307129798903e-3
allele num: 1094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2434
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 4.812834224598931e-3
allele num: 1870
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.23728813559322e-3
allele num: 236
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.553e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

DP
type: SiteQuality
SIO_000300: 4.6262e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 2.122e0

GenotypeQuality
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 713
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6572
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 422
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 555
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3565
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.083333333333333e-3
allele num: 480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.007226013649137e-4
allele num: 9964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.536e1

FS
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 5.776e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.12e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
all individuals: 362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3938
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 713
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3553
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6689
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.004621257785815e-4
allele num: 9954
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.4522e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.02e-2

DP
type: SiteQuality
SIO_000300: 5.82963e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.161e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.124e0

QD
type: SiteQuality
SIO_000300: 6.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23252
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6918
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.261034047919294e-4
allele num: 7930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.841121495327102e-4
allele num: 1712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.028467595396729e-4
allele num: 9906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.046e0

QD
type: SiteQuality
SIO_000300: 1.148e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 5.84448e5

GenotypeQuality
all individuals: 27274
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1000
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 14837
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1183
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 829
bin: 8.25e1
variant carriers: 13

GenotypeQuality
all individuals: 667
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3771
bin: 9.75e1
variant carriers: 180

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 9

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 6

Other
type: Population
allele count: 2
allele frequency: 7.142857142857143e-3
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 84
allele frequency: 1.031434184675835e-2
allele num: 8144
num of homozygotes: 0

East Asian
type: Population
allele count: 22
allele frequency: 1.953818827708704e-2
allele num: 1126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.899705014749262e-3
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 66
allele frequency: 5.255613951266125e-3
allele num: 12558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.208333333333333e-4
allele num: 1920
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.15831e5

GenotypeQuality
all individuals: 575
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28455
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3660
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.65579543714592e-5
allele num: 13062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.48e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.675e0

VQSLOD
type: SiteQuality
SIO_000300: -2.325e-1

QD
type: SiteQuality
SIO_000300: 1.718e1

DP
type: SiteQuality
SIO_000300: 7.32499e5

GenotypeQuality
all individuals: 177
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5582
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 685
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1412
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.02e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

MQ
type: SiteQuality
SIO_000300: 5.739e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.129e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

DP
type: SiteQuality
SIO_000300: 8.42396e5

GenotypeQuality
all individuals: 12695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31517
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
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variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27694
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.127583749109052e-4
allele num: 2806
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.57381e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

FS
type: SiteQuality
SIO_000300: 1.384e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 427
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1923
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 616
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 13449
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29289
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3930
bin: 9.75e1
variant carriers: 284

GenotypeQuality
all individuals: 792
bin: 1.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1330
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 7.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3534
num of homozygotes: 0

African
type: Population
allele count: 266
allele frequency: 4.350670592083742e-2
allele num: 6114
num of homozygotes: 1

Latino
type: Population
allele count: 10
allele frequency: 2.893518518518518e-3
allele num: 3456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.75609756097561e-5
allele num: 30750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.185e0

QD
type: SiteQuality
SIO_000300: 1.667e1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.002284e6

GenotypeQuality
all individuals: 1018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
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GenotypeQuality
all individuals: 719
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 618
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variant carriers: 1

GenotypeQuality
all individuals: 901
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.75e1
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GenotypeQuality
all individuals: 13782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3940
bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.579979360165118e-4
allele num: 3876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
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: 5
allele frequency: 1.530362389813908e-4
allele num: 32672
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.651e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.131e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

DP
type: SiteQuality
SIO_000300: 1.017866e6

GenotypeQuality
all individuals: 356
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1709
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13782
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3940
bin: 9.75e1
variant carriers: 285

GenotypeQuality
all individuals: 623
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 436
bin: 5.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.530362389813908e-4
allele num: 32672
num of homozygotes: 0

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

African
type: Population
allele count: 271
allele frequency: 4.254317111459969e-2
allele num: 6370
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 2.579979360165119e-3
allele num: 3876
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.017866e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

QD
type: SiteQuality
SIO_000300: 1.651e1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

FS
type: SiteQuality
SIO_000300: 1.131e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 398
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
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variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.08198515995621e-5
allele num: 32884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 1.015713e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

GenotypeQuality
all individuals: 1741
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1926
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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
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 784
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variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.97849526419253e-5
allele num: 33574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.84e-1

DP
type: SiteQuality
SIO_000300: 1.01342e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
SIO_000300: 1.246e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26076
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
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variant carriers: 0

GenotypeQuality
all individuals: 1257
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 880
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1620
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variant carriers: 1

GenotypeQuality
all individuals: 2332
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variant carriers: 0

GenotypeQuality
all individuals: 3708
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variant carriers: 3

GenotypeQuality
all individuals: 430
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variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4232
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 6.257822277847309e-4
allele num: 4794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 4.748e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 9.98533e5

GenotypeQuality
all individuals: 483
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10449
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3706
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 879
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variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34482
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.895375284306293e-4
allele num: 10552
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.464e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

DP
type: SiteQuality
SIO_000300: 9.99489e5

GenotypeQuality
all individuals: 8337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 2.5e0
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GenotypeQuality
all individuals: 1122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
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GenotypeQuality
all individuals: 1711
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3777
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 876
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24698
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GenotypeQuality
all individuals: 766
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.875050313380484e-5
allele num: 34782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

FS
type: SiteQuality
SIO_000300: 2.029e0

QD
type: SiteQuality
SIO_000300: 2.686e1

VQSLOD
type: SiteQuality
SIO_000300: -1.63e0

DP
type: SiteQuality
SIO_000300: 9.84119e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.438e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQ
type: SiteQuality
SIO_000300: 5.764e1

GenotypeQuality
all individuals: 2616
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1913
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variant carriers: 0

GenotypeQuality
all individuals: 431
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GenotypeQuality
all individuals: 3435
bin: 3.75e1
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GenotypeQuality
all individuals: 623
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 877
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1558
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GenotypeQuality
all individuals: 4060
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GenotypeQuality
all individuals: 6483
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GenotypeQuality
all individuals: 767
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.855021983669274e-5
allele num: 35026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.586e0

FS
type: SiteQuality
SIO_000300: 2.688e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e0

DP
type: SiteQuality
SIO_000300: 9.76788e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.1e-1

QD
type: SiteQuality
SIO_000300: 4.41e0

GenotypeQuality
all individuals: 2955
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.5e0
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GenotypeQuality
all individuals: 21630
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
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variant carriers: 0

GenotypeQuality
all individuals: 6065
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GenotypeQuality
all individuals: 431
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GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 1483
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GenotypeQuality
all individuals: 2089
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GenotypeQuality
all individuals: 623
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GenotypeQuality
all individuals: 1547
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GenotypeQuality
all individuals: 4080
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
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GenotypeQuality
all individuals: 1012
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.517623363544814e-4
allele num: 3972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34962
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.651e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

DP
type: SiteQuality
SIO_000300: 9.76705e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.383e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

QD
type: SiteQuality
SIO_000300: 2.479e1

GenotypeQuality
all individuals: 4185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19960
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GenotypeQuality
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GenotypeQuality
all individuals: 432
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GenotypeQuality
all individuals: 2145
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GenotypeQuality
all individuals: 388
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GenotypeQuality
all individuals: 1498
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 1015
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variant carriers: 0

GenotypeQuality
all individuals: 1399
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variant carriers: 0

GenotypeQuality
all individuals: 5241
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.533091568449683e-4
allele num: 4412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.991e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 2.399e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 5.69e0

DP
type: SiteQuality
SIO_000300: 9.8019e5

GenotypeQuality
all individuals: 1665
bin: 6.25e1
variant carriers: 1478

GenotypeQuality
all individuals: 5891
bin: 2.25e1
variant carriers: 5107

GenotypeQuality
all individuals: 3063
bin: 2.75e1
variant carriers: 3021

GenotypeQuality
all individuals: 5399
bin: 3.75e1
variant carriers: 5385

GenotypeQuality
all individuals: 1139
bin: 2.5e0
variant carriers: 177

GenotypeQuality
all individuals: 3427
bin: 1.75e1
variant carriers: 3401

GenotypeQuality
all individuals: 3699
bin: 4.75e1
variant carriers: 3691

GenotypeQuality
all individuals: 2372
bin: 4.25e1
variant carriers: 2367

GenotypeQuality
all individuals: 676
bin: 7.75e1
variant carriers: 667

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 539

GenotypeQuality
all individuals: 1105
bin: 5.75e1
variant carriers: 1101

GenotypeQuality
all individuals: 406
bin: 8.75e1
variant carriers: 403

GenotypeQuality
all individuals: 857
bin: 7.5e0
variant carriers: 685

GenotypeQuality
all individuals: 541
bin: 9.25e1
variant carriers: 533

East Asian
type: Population
allele count: 4761
allele frequency: 7.728896103896103e-1
allele num: 6160
num of homozygotes: 1796

South Asian
type: Population
allele count: 11293
allele frequency: 9.059040590405905e-1
allele num: 12466
num of homozygotes: 5114

Other
type: Population
allele count: 602
allele frequency: 9.093655589123867e-1
allele num: 662
num of homozygotes: 273

European (Finnish)
type: Population
allele count: 5006
allele frequency: 9.557082856051928e-1
allele num: 5238
num of homozygotes: 2391

Latino
type: Population
allele count: 4989
allele frequency: 7.287467134092901e-1
allele num: 6846
num of homozygotes: 1709

African
type: Population
allele count: 5385
allele frequency: 6.9826244813278e-1
allele num: 7712
num of homozygotes: 1823

European (Non-Finnish)
type: Population
allele count: 44695
allele frequency: 9.340257460503218e-1
allele num: 47852
num of homozygotes: 20845

DP
type: SiteQuality
SIO_000300: 1.790973e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.366e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 3.132e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9573
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7057
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.202459488887466e-5
allele num: 31226
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.644e0

QD
type: SiteQuality
SIO_000300: 1.413e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

DP
type: SiteQuality
SIO_000300: 1.038005e6

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

FS
type: SiteQuality
SIO_000300: 2.497e0

MQRankSum
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6502
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11347
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 314
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30070
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.94e-1

DP
type: SiteQuality
SIO_000300: 1.018428e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.095e0

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.722e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.683e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.245e1

GenotypeQuality
all individuals: 315
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5054
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.066e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.37146e5

QD
type: SiteQuality
SIO_000300: 1.435e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 2872
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 3.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17302
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.373e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.58e-2

MQ
type: SiteQuality
SIO_000300: 6.119e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

DP
type: SiteQuality
SIO_000300: 8.65057e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

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

GenotypeQuality
all individuals: 809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.650523241664638e-4
allele num: 8218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.42133e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.03e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

MQ
type: SiteQuality
SIO_000300: 5.391e1

MQRankSum
type: SiteQuality
SIO_000300: -1.047e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

FS
type: SiteQuality
SIO_000300: 3.547e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2076
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27543
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.240694789081886e-4
allele num: 8060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12498
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.927e-1

DP
type: SiteQuality
SIO_000300: 8.30115e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.299e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

MQRankSum
type: SiteQuality
SIO_000300: -2.557e0

MQ
type: SiteQuality
SIO_000300: 4.752e1

QD
type: SiteQuality
SIO_000300: 7.49e0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 8.27399e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.95e-2

GenotypeQuality
all individuals: 3801
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5146
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.29366106080207e-4
allele num: 7730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.013376570733685e-4
allele num: 9868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.994e1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.99e-2

QD
type: SiteQuality
SIO_000300: 6.89e0

DP
type: SiteQuality
SIO_000300: 8.20584e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1951
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5772
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1116
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.310272536687631e-4
allele num: 7632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e0

MQRankSum
type: SiteQuality
SIO_000300: -2.724e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.85e-2

MQ
type: SiteQuality
SIO_000300: 4.657e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 8.20075e5

QD
type: SiteQuality
SIO_000300: 4.45e0

GenotypeQuality
all individuals: 642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16969
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.186721991701245e-4
allele num: 1928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.261e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 2.942e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.44192e5

GenotypeQuality
all individuals: 704
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2971
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 711
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 16969
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 1552
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 9.75e1
variant carriers: 388

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 1

South Asian
type: Population
allele count: 57
allele frequency: 8.489722966934763e-3
allele num: 6714
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.376146788990826e-2
allele num: 218
num of homozygotes: 0

African
type: Population
allele count: 132
allele frequency: 6.846473029045644e-2
allele num: 1928
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 146
allele frequency: 1.886792452830189e-2
allele num: 7738
num of homozygotes: 3

Latino
type: Population
allele count: 7
allele frequency: 1.62037037037037e-2
allele num: 432
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.99203187250996e-3
allele num: 502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 5.590062111801243e-3
allele num: 1610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.942e1

DP
type: SiteQuality
SIO_000300: 4.44192e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.261e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

GenotypeQuality
all individuals: 711
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 9.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 4.149377593360996e-3
allele num: 1928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.261e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.44192e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 2.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 257

GenotypeQuality
all individuals: 9311
bin: 1.25e1
variant carriers: 8437

GenotypeQuality
all individuals: 700
bin: 4.75e1
variant carriers: 695

GenotypeQuality
all individuals: 1552
bin: 2.25e1
variant carriers: 1181

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 449

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 254

GenotypeQuality
all individuals: 768
bin: 3.75e1
variant carriers: 742

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 324

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 306

GenotypeQuality
all individuals: 711
bin: 5.75e1
variant carriers: 703

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 803

GenotypeQuality
all individuals: 590
bin: 3.25e1
variant carriers: 534

African
type: Population
allele count: 1110
allele frequency: 5.757261410788381e-1
allele num: 1928
num of homozygotes: 371

Other
type: Population
allele count: 204
allele frequency: 9.357798165137615e-1
allele num: 218
num of homozygotes: 96

East Asian
type: Population
allele count: 354
allele frequency: 7.051792828685259e-1
allele num: 502
num of homozygotes: 149

European (Finnish)
type: Population
allele count: 1529
allele frequency: 9.496894409937888e-1
allele num: 1610
num of homozygotes: 729

Latino
type: Population
allele count: 278
allele frequency: 6.435185185185185e-1
allele num: 432
num of homozygotes: 111

South Asian
type: Population
allele count: 5865
allele frequency: 8.735478105451295e-1
allele num: 6714
num of homozygotes: 2601

European (Non-Finnish)
type: Population
allele count: 6894
allele frequency: 8.909278883432411e-1
allele num: 7738
num of homozygotes: 3172

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.261e-1

QD
type: SiteQuality
SIO_000300: 2.942e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

DP
type: SiteQuality
SIO_000300: 4.44192e5

GenotypeQuality
all individuals: 627
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 822
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 704
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 9311
bin: 1.25e1
variant carriers: 25

GenotypeQuality
all individuals: 700
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16969
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 768
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 318
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 559
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 590
bin: 3.25e1
variant carriers: 3

African
type: Population
allele count: 33
allele frequency: 1.711618257261411e-2
allele num: 1928
num of homozygotes: 1

Latino
type: Population
allele count: 4
allele frequency: 9.259259259259259e-3
allele num: 432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.242236024844721e-3
allele num: 1610
num of homozygotes: 0

South Asian
type: Population
allele count: 48
allele frequency: 7.149240393208221e-3
allele num: 6714
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.97609561752988e-3
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 5.556991470664254e-3
allele num: 7738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.261e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.44192e5

QD
type: SiteQuality
SIO_000300: 2.942e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.292323597828896e-4
allele num: 7738
num of homozygotes: 0

South Asian
type: Population
allele count: 147
allele frequency: 2.189454870420018e-2
allele num: 6714
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 2.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.261e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.44192e5

GenotypeQuality
all individuals: 3806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4060
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2889
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22094
bin: 9.75e1
variant carriers: 9

Latino
type: Population
allele count: 9
allele frequency: 7.790858725761773e-4
allele num: 11552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

FS
type: SiteQuality
SIO_000300: 9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.429596e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

QD
type: SiteQuality
SIO_000300: 1.571e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3817
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22091
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65706
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.645760743321719e-4
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

FS
type: SiteQuality
SIO_000300: 3.795e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.292e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

DP
type: SiteQuality
SIO_000300: 2.443338e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 1199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5787
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22088
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.303271210738955e-4
allele num: 15346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9694
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65792
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

QD
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SIO_000300: 1.07e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.057e0

VQSLOD
type: SiteQuality
SIO_000300: -1.058e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 2.451925e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 3.609e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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SIO_000300: 1.388e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 2.455719e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15752
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 2.464748e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.533e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.336332530731213e-5
allele num: 15782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

DP
type: SiteQuality
SIO_000300: 2.465355e6

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 4
allele frequency: 4.63821892393321e-4
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 2.485644e6

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.618e0

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.25376762275158e-4
allele num: 16456
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 2.486303e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505857614899369e-5
allele num: 66580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.486761e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3837
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

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